furdon2003.pdf

FOCUS ON THE PHYSICAL SUSAN A. FURDON, RNC, MS, NNP, AND DAVID A. CLARK, MD, SERIES EDITORS SCALP HAIR CHARACTERISTICS...

FOCUS ON THE PHYSICAL SUSAN A. FURDON, RNC, MS, NNP, AND DAVID A. CLARK, MD, SERIES EDITORS SCALP HAIR CHARACTERISTICS IN THE NEWBORN INFANT SUSAN A. FURDON, RNC, MS, NNP, AND DAVID A. CLARK, MD ABSTRACT: Scalp hair growth and patterning are closely associated with the development of the central nervous system. A number of genetic, metabolic, and neurologic disorders are associated with recognizable scalp hair abnormalities. For this reason, a systematic step-by-step assessment of the hair and scalp should be an integral part of every initial newborn physical assessment. This article reviews the clinically relevant embryology related to fetal scalp hair formation. Normal cycles of hair growth and loss are discussed. A systematic review of typical newborn scalp hair characteristics such as color, quantity, texture, direction of growth, hairlines, and hair whorls is provided. Conditions associated with abnormal hair color, quality, quantity, and distribution are presented in a series of clinical photographs, and their salient features are discussed. Abnormal hair often occurs as a constellation of findings; implications for clinical care and further investigation will be briefly described. Cultivating Clinical Expertise KEY WORDS: newborn, infant, scalp hair, embryology, hypopigmentation, hypotrichosis, hypertrichosis, whorl, hairline, racial hair characteristics, alopecia. C linical inspection of scalp hair characteristics can provide important clues to aid the early identi- HAIR FORMATION IN UTERO fication of genetic, metabolic, and neurologic disor- ders.1-3 A number of autosomal dominant, autosomal T he embryo is formed from 3 distinct germ layers: the endoderm, mesoderm, and ectoderm. The brain, spinal cord, and peripheral nervous system as recessive, and X-linked single gene disorders are char- acterized by hair abnormalities.3 Hair color can also well as the skin, hair, and nails arise primarily from the signal a metabolic disorder or nutritional deficiency. ectoderm. Formation of these tissues and structures Patterns of hair growth can be abnormal, serving as overlaps in the embryonic and fetal periods.5 Hair external markers of underlying structural brain and follicles are formed by an interplay between the dermis central nervous system abnormalities.2 and epidermis. Hair development begins early in the The initial assessment of all newborns should in- fetal period; initial hair bud formation occurs during clude a systematic assessment of hair color, quan- the eighth week of gestation (Fig 1).5,6 The hair bud tity, texture, direction of growth, hairlines, and hair develops into a club-shaped hair bulb. The epithelial whorls.3,4 An understanding of the embryologic devel- cells of the hair bulb have the unique function of opment and cycles of scalp hair growth will aid the differentiating cells within the follicle, producing clinician in assessing infants of various gestational and both the outer and inner root sheaths and the hair postnatal ages. Infants with suspected pathology may itself. Hair follicles appear on the scalp by the tenth benefit from a focused reassessment, an in-depth family week of gestation.7 Follicle induction occurs in a precise history, and a careful inventory of atypical or abnormal pattern so that follicles are spaced equidistant from one another.6 No new hair follicles are formed after birth.1 hair characteristics. As the epithelial cells within the hair tract prolifer- ate, they are pushed up the dermal root sheath to the surface and are keratinized, forming the hair shaft.8 From the Departments of Neonatology and Pediatrics, Children’s Hospital at Albany Medical Center, Albany, NY. Keratinization occurs from the base of the hair shaft Address reprint requests to Susan A. Furdon, RNC, MS, and is evident at 15 weeks gestation.6 The elongating NNP, Albany Medical Center, 47 New Scotland Ave., Albany, hair follicle is extruded through a straight but slightly NY 12208. angled canal. Consequently, hair growth occurs at an E-mail: [email protected] oblique angle relative to the skin. As hair grows, it Copyright © 2003 by The National Association of pierces the epidermis to rise above the surface of the Neonatal Nurses skin. The sloping angle of the scalp hair results from 1536-0903/03/0306-0004$35.00/0 the direction of stretch and tension on the skin of the doi:10.1016/j.adnc.2003.09.005 scalp during the concurrent development and matura- 286 Advances in Neonatal Care, Vol 3, No 6 (December), 2003: pp 286-296  ASSESSING NEWBORN SCALP HAIR CHARACTERISTICS 287 Figure 1. Note the progressive development of hair during early gestation. The hair follicle passes through an angled canal relative to the skin. Reprinted with permission.5 tion of the underlying fetal brain that is occuring phase and is likely to fall out between 8 to 12 weeks during weeks 10 to 16 of gestation.3 The parietal hair after birth.9 whorl is a result of the posterior scalp stretching that The density of hair follicles is highest at birth be- occurs with the outgrowth of the brain during this cause of the cyclic stages of hair growth. Hair density, time.3 By 18 weeks gestation the scalp hair pattern is structure, and growth are correlated with sex, race, and set.3 nutritional status.7 Infants with darker complexions have a slower rate of transition to the telogen phase, so they tend to have more abundant hair at birth.10 HAIR GROWTH AND LOSS D uring late fetal and early neonatal life, synchro- nized cycles of hair growth and loss occur simul- HAIR CHARACTERISTICS taneously. Anagen, or growing hair follicles, cover the entire scalp by about 18 to 20 weeks gestation. At 24 to 28 weeks gestation, the anagen hair follicles evolve to T he follicles on the scalp initially produce vellus hair, a silky hair that is seen in full-term infants. Vellus hair is short, fine, and poorly pigmented. Over a short catagen phase in which the follicles involute.6 time, the follicle diameter enlarges, and the hair ac- Telogen hair follicles are those in the final resting quires a myelin sheath. Intermediate scalp hair devel- phase before the hair is shed as club hair (Fig 2). ops 3 to 7 months after birth and is replaced with In general, hair growth occurs from the forehead to mature, thick terminal hair by 2 years of age.7 Al- the nape of the neck. At birth, there are 2 waves of though vellus hair continues to develop and accounts scalp hair growth. The earliest wave of growth is the for 6% to 25% of scalp hair, it is less noticeable because hair over the frontal and parietal regions of the scalp. of its light pigmentation.4 This hair is already converting to telogen hair and will Melanin is responsible for hair pigmentation. Skin be shed first. The more recent wave is the anagen hair melanocytes originate from neural crest cells and mi- in the occipital region. This hair enters the telogen grate to the developing epidermis between weeks 6 and Advances in Neonatal Care, Vol 3, No 6 (December), 2003: pp 286-296 288 FURDON AND CLARK Figure 2. Phases of the hair cycle. Anagen is the growing phase. Catagen is a short interphase prior to the resting phase, telogen. Hair is shed in the telogen phase as club hair. Reprinted with permission.9 7 of gestation. Melanocytes in the hair bulb contain Pheomelanin: an iron-rich pigment that colors subcellular organelles known as melanosomes that syn- hair yellow-blonde to red thesize and store melanin. Melanocytes deliver the melanosomes to keratinocytes, where they are incor- The intensity of hair color depends on the density of porated into the growing hair shaft, imparting color to pigment within the melanosome. Both eumelanin and the hair. Different hair colors result from the relative pheomelanin are made from the amino acid tyrosine, amount and type of melanin.1,5 Two types of melanin using the enzyme tyrosinase. Increased tyrosinase activity account for all possible hair colors: increases pigment production and results in a darker hair color. Reduced pigment or patchy deposition of pigment Eumelanin: colors hair brown to black within melanosomes results in lighter hair. Table 1. Hair Terminology2,7,9,11,12 Term Synonym Definition Alopecia Baldness Abnormal deficiency of hair; usually describes hair that is grown and then lost. Hypotrichosis Alopecia may be partial or complete, generalized or localized. Anagen First phase in hair cycle characterized by growth of hair follicles. Catagen Second phase in hair cycle. Short interphase between anagen and telogen hair phase, characterized by involution of the hair follicle. Forelock Lock of hair growing in the front of the head. Hirsutism Hypertrichosis Condition characterized by excessive growth of hair. May be genetic, hormonal, or drug induced. Hypotrichosis Alopecia Abnormal deficiency of hair. Usually describes lack of any hair growth. Keratin Protein substance in hair and nails. Telogen Third phase in hair cycle. Characterized as the resting phase of the hair follicle. Hair is shed as club hair. Terminal hair Thicker, more mature pigmented hair. Vellus hair Lighter pigmented, fine hair that may be present on the forehead and face. Whorl A pattern of hair growth characterized by a clockwise spiral or coil. Associated with the point of maximal brain growth. Advances in Neonatal Care, Vol 3, No 6 (December), 2003: pp 286-296  ASSESSING NEWBORN SCALP HAIR CHARACTERISTICS 289 Table 2. Racial Differences in Hair Characteristics11 African American Asian Caucasian Follicle density 100,000-150,000 90,000-120,000 100,000-150,000 scalp follicles scalp follicles scalp follicles Follicle density related to hair color: (red ⬍ brown ⬍ blonde) Follicle characteristics More strength; more pliable Coarse and thick Thin Presentation Tightly coiled or spiral hair Straight Variable Straight, wavy, curly Hair color usually follows the tendency of skin color; abnormal textures are not obvious in the newborn however, exceptions occur.8 When comparing hair period.7 In older infants or children, ask the parents color with a parent, it is important to note that hair about changes in their child’s hair texture over time; color may change during puberty because of an increase these changes should be noted and may have clinical in melanocyte pigment in response to increased hor- significance. monal levels. Tyrosinase also is more active with age.11 Hair length is fairly uniform over the scalp for any Hair Growth Patterns individual infant, but varies significantly between in- Inspect the scalp for hair growth patterns. Observe fants. Hair length is related to length of time the hair distribution patterns, including the position of and is in the anagen phase and is unique to a specific body number of hair whorls. The usual location of the area. Scalp hair will grow long, whereas arm hair only parietal hair whorl is several centimeters anterior to grows 1 to 2 cm.9 The strength of the hair shaft is the posterior fontanel. Hair whorl locations are de- related to the elements of protein.1 scribed in relation to the midline. Location varies:3 SCALP HAIR EXAMINATION 56% are located left of the midline 30% are located right of the midline A focused evaluation of scalp hair should be part of every newborn physical assessment. Although typically completed in the delivery room, it may be 14% at midline. This is probably related to the slightly larger left side useful to re-evaluate the infant after the initial bath, of the brain.3 The typical hair whorl in 95% of Cau- when vernix and blood have been removed. Table 1 casian infants is a single parietal hair whorl; 80% of provides the common terminology that is used to these rotate clockwise. Double parietal hair whorls (Fig describe hair. 4) are a normal variant in 5% of individuals.3 Ten percent of African American infants with short, curly Hair Color, Quantity, and Texture hair have a parietal hair whorl.2,13 Observe the slope of Note the color of the infant’s hair; it should be the hair follicle. In the newborn period, unruly hair concordant racially with the parents.4,7 Table 2 com- that sticks out straight despite attempts at grooming is pares common racial hair characteristics. Hair color normal (Fig 5). should be fairly uniform, but may include a mixture of Examine the forehead hair patterning; many varia- colors depending on the relative amounts of vellus and tions are normal. Infants with underlying brain abnor- terminal hair. This can give the appearance of the hair malities may have abnormal hair patterning, such as a being frosted and is a normal finding. Random patches striking frontal upsweep or multiple parietal whorls.2 of white hair are familial or sporadic and are inconse- Over the frontal region, hair tends to arc outward quential7 (Fig 3). Be alert for diffuse or localized areas laterally. In about 7% of the general population, the of hypopigmentation. parietal hair and the frontal hair converge creating an Assess the quantity and distribution of hair; specif- anterior upsweep of the hair commonly referred to as a ically look for areas of diffuse or localized absence or cowlick.2 Cowlicks are often normal. The V-shaped abundance. Normal hair patterns vary widely. In in- downward projection of scalp hair, known as a widow’s fants, localized absence of hair can be insignificant. peak, is often a familial characteristic and can be Hair in the occipital region enters the telogen phase normal. Assess the spacing of the infant’s eyes, looking after birth, so occipital hair loss around 8 weeks of age for hypertelorism, an associated finding. is common.4 Observe the infant’s anterior and posterior hair mar- Observe and palpate the hair’s texture to determine gins for a distinct demarcated hairline. The anterior if it is coarse or fine. Typically, newborns have rela- hairline is lower in newborns than older children. This tively fine hair. Most of the conditions associated with feature is most prominent in newborns from racial Advances in Neonatal Care, Vol 3, No 6 (December), 2003: pp 286-296 290 FURDON AND CLARK Figure 3. Hypopigmented hair localized to the occipital area. Random patches of hypopigmented hair are inconsequential. Photograph courtesy of David Clark, MD. Figure 5. Unruly hair after the newborn period may indicate groups with profuse hair growth. Although the normal poor brain growth. In this term infant, unruly hair is normal. position of the anterior hairline can be variable, there Photograph courtesy of David Clark, MD. should be a separation between the hairline and the eyebrows (Fig 6). Normally, posterior hairline hair roots are located above the neck crease. cate Waardenburg syndrome (Fig 7). This autosomal dominant syndrome is associated with iris pigmenta- ABNORMAL HAIR FINDINGS tion disturbances and severe, congenital bilateral co- chlear deafness.3 Four types have been described.12 A lthough a wide variety of normal hair pigmenta- tion exists, a number of specific findings may warrant further investigation. The examiner should be Fresh mutations are associated with advanced paternal age.3,12 Prompt hearing screening is indicated in sus- alert for areas of hypopigmentation as well as abnormal pect infants. hair quality, texture, patterning, or distribution. Albinism, an autosomal recessive trait, is a condition characterized by generalized hypopigmentation of the Conditions Associated With Hypopigmentation of eyes, skin, and hair. Classic features include snow- the Hair white hair, pink eyes, and diffuse skin hypopigmenta- tion. It can be detected at birth and is found worldwide Localized patches of hypopigmentation are usually in all races12 (Fig 8). Albinism is caused by either a inconsequential; however, a white forelock may indi- failure of the melanocytes to produce melanin or de- creased levels of the enzyme tryosinase resulting in decreased melanin synthesis.5 The melanocytes them- selves can be normal in structure and function.12 Chediak-Higashi syndrome is a lethal autosomal recessive disorder characterized by silvery sheen hair. It involves partial or incomplete albinism. Affected infants have recurrent bacterial infections attributable to abnormalities in cellular metabolism and chemo- taxis.9,12 Hair that is lighter than family members or that has a gray sheen may be the result of a generalized dilution of pigment. Genetic disorders that can present with hypopigmentation of scalp hair include the following: Prader-Willi syndrome Piebaldism Ectodactyly– ectodermal dysplasia– clefting (EEC) Figure 4. Note double hair whorl. Multiple hair whorls may syndrome indicate abnormal brain growth. Photograph courtesy of Cross syndrome (oculo cerebral hypopigmenta- David Clark, MD. tion) Advances in Neonatal Care, Vol 3, No 6 (December), 2003: pp 286-296  ASSESSING NEWBORN SCALP HAIR CHARACTERISTICS 291 Figure 6. Anterior hairlines that extend to the forehead are Figure 8. This African American infant has diffuse hypopig- normal. This anterior upsweep is termed a cowlick. Photo- mentation of his hair. Photograph courtesy of David Clark, graph courtesy of David Clark, MD. MD. color mixed with hypopigmented hair, is associated Chediak-Higashi syndrome with Cross syndrome (also known as oculocerebral Piebaldism, an autosomal dominant disorder, is syndrome or hypopigmentation syndrome).19 There is caused by defective proliferation and migration of me- a family history of consanguinity with this genetic lanocytes during fetal development.12 It is character- disorder. ized by localized hypopigmentation of the scalp, trunk, Light-colored hair can also indicate a nutritional upper arms, and legs. Demarcated patches of white skin deficiency or an inborn error of metabolism. In infants and frontal scalp hair can be seen. The pigmentation with phenylketonuria (PKU), excessive circulating on the hands and feet is normal (Fig 9). phenylalanine inhibits the binding of tyrosine to ty- A mixed pattern of hair pigmentation, normal hair rosinase and inhibits hair pigmentation.13 Caucasian infants with PKU typically have fair skin, blonde hair, and blue eyes; affected African American and Asian infants have hair lighter than siblings (Fig 10). A light hair color can also be seen in homocystinuria.3 Conditions Associated With Abnormal Hair Quantity or Distribution The terms hypotrichosis, hypotrichiasis, and diffuse al- opecia often are used interchangeably to describe an infant with decreased hair. Typically, diffuse alopecia describes hair growth that is initially present but is later lost. Diffuse alopecia can indicate a genetic hair shaft abnormality. Isolated congenital alopecia can occur with and without other defects of the skin, hair, and nails. Hypotrichosis is sometimes differentiated from alope- cia as an abnormal deficiency of hair due to insufficient hair growth. Hypotrichosis may represent a total ab- sence of hair follicles or it may be associated with a scattered, sparse hair pattern and a decreased number of small follicles that can be seen on biopsy. Both alopecia and hypotrichosis can be important, albeit Figure 7. Infants with Waardenburg syndrome have a white subtle, features in many syndromes. These symptoms forelock of hair. Photograph courtesy of David Clark, MD. may present after the neonatal period.1 Advances in Neonatal Care, Vol 3, No 6 (December), 2003: pp 286-296 292 FURDON AND CLARK Figure 11. Congenital cutis aplasia: Note the punch biopsy appearance of the scalp. Photograph courtesy of David Clark, MD. is associated with birth trauma from scalp monitors, Figure 9. Piebaldism: Note the localized hypopigmentation forcep application, or vacuum extraction. Carefully on the forehead and hair. Photograph courtesy of David examine the head for other associated findings, such as Clark, MD. a cephalohematoma. Localized alopecia can also be the result of a nodular lesion of the scalp, a sebaceous nevus (Fig 12), or an epidermal nevus.2,7 Acquired Hypotrichosis with ectodermal dysplasia is an X- localized alopecia can be the result of trauma from linked or autosomal recessive syndrome with variable intravenous infiltration or extravasation or can occur hypoplasia of the hair follicles.2,3 The hair is hypopig- with residual scars from infection. In older infants, mented and generally sparse. Hypotrichosis also can alopecia confined to the occipit is related to typical occur with ichthyoses.2 Acquired generalized alopecia cyclic hair loss at this stage. can also be the result of a nutritional deficiency (zinc, Be alert for excessive hair formation. In diffuse vitamin B, biotinidase) or a metabolic deficiency (such hypertrichosis, there is excess development of hair as homocystinuria).9,10,15 follicles or a persistence of hair that usually disappears In contrast to generalized alopecia, some infants may in the fetal period.5 Hair growth in excess of normal manifest localized alopecia. Carefully note the loca- can be an isolated finding or seen as part of a syn- tion, distribution, and extent. Examine the scalp drome.2 Genetic disorders that present with hypertri- closely for a disruption in the scalp formation, such as chosis include3: the classic punch biopsy lesion of cutis aplasia. Al- though most lesions are isolated, cutis aplasia often is Cornelia de Lange syndrome (Fig 13) associated with trisomy 13 (Fig 11). Localized alopecia Coffin-Siris syndrome Leprechaunism Hurler syndrome (mucopolysaccharide storage dis- ease) Trisomy 18 Hypertrichosis can be drug-induced. Drugs that in- duce hypertrichosis make vellus hairs grow larger and produce more pigmented terminal hair. In addition, these drugs can prolong the anagen phase of hair, resulting in longer hair fibers. Examples of drug-in- duced hypertrichosis are the fetal hydantoin syndrome3 and, occasionally, fetal alcohol syndrome.2 Postnatal corticosteroids and diazoxide are 2 additional drugs that can induce hypertrichosis.11 Evaluate infants carefully for localized hypertricho- sis. A tuft of hair, or a circular distribution of longer, Figure 10. This blonde haired infant has the metabolic disor- darker hair, called the hair collar sign, may be present der, phenylketonuria (PKU). Photograph courtesy of David and signify underlying neural tissue abnormality.2 Ex- Clark, MD. amine the surrounding skin and tissues closely for an Advances in Neonatal Care, Vol 3, No 6 (December), 2003: pp 286-296  ASSESSING NEWBORN SCALP HAIR CHARACTERISTICS 293 Figure 12. Localized scalp alopecia attributable to a seba- Figure 14. Localized hypertrichosis caused by a congenital ceous nevus. Photograph courtesy of David Clark, MD. melanocytic nevus. Note the longer, coarser hair over the nevus. Photograph courtesy of David Clark, MD. underlying nevus or other developmental abnormality, such as a cranial meningocele, encephalocele, or het- lines are more consistently abnormal. Hair roots lo- erotopic meningeal or brain tissue.2 A congenital mela- cated below the neck crease, especially at the lateral nocytic nevus is a flat scalp lesion covered with dense, edges, are seen in infants with syndromes involving a terminal hair that is darker, longer, and coarser than short or webbed neck. hair on the surrounding scalp2,7 (Fig 14). Multiple hair whorls, an absent hair whorl, or an Conditions Associated With Abnormalities in Hair abnormally placed hair whorl (usually posteriorly) can Texture be an indication of abnormal brain growth and mental Scalp hair that is brittle or fragile may indicate a hair retardation.3 After the newborn period, aberrant hair shaft abnormality. Hair shaft abnormalities are seen in directional patterning, that is hair that lacks slope and genetic and metabolic diseases; conditions associated sticks out straight or is unruly, may be associated with with hair shaft abnormalities are summarized in Table altered scalp shape, a lack of early fetal brain growth, or 4. These conditions present with hair that may appear both.3 beaded, flattened, and twisted; short, dull, or broken; or A striking frontal upsweep may indicate a structur- wooly and excessively kinky; or spangled, glistening, ally abnormal brain or syndrome. Soft sparse scalp hair, and uncombable.2,3,18 Be alert for other associated frontal cowlicks and widow’s peak hairline are noted in features and related syndromes. A careful clinical de- FG, or Kaveggia-Opitz syndrome. Other associated scription of the hair is useful; microscopic examination features include widely spaced eyes, low-set ears, a thin upper lip, and a full lower lip.15,17 Low frontal and low posterior hairlines are each associated with several syndromes, summarized in Table 3. Low posterior hair- Table 3. Syndromes Associated With Abnormal Hairlines3 LOW FRONTAL HAIRLINE Costello syndrome Cornelia de Lange syndrome Coffin-Siris syndrome Fanconi syndrome Fetal hydantoin syndrome ATYPICAL HAIR DISTRIBUTION Fraser syndrome (hair growth on lateral forehead extending to lateral eyebrow) Treacher Collins syndrome (projection of scalp hair onto lateral cheek) LOW POSTERIOR HAIRLINE Noonan syndrome Turner syndrome Kabuki makeup syndrome Figure 13. Infant with Cornelia de Lange syndrome. Note the Cornelia de Lange syndrome low anterior and posterior hairlines and diffuse hypertricho- Fetal hydantoin syndrome sis. Reprinted with permission.16 Advances in Neonatal Care, Vol 3, No 6 (December), 2003: pp 286-296 294 FURDON AND CLARK Table 4. Abnormal Hair Qualities2,3,18 Abnormal Qualities Hair Shaft Characteristics Associated Syndromes Monilethrix Normal at birth Beaded appearance Within 1 week, hair is dull and brittle Breaks spontaneously; stubble-like appearance Pili torti Dry and brittle Menkes (X-linked) 3 to 4 twists of hair shaft on Breaks at different lengths Bazex its own axis Stands out from scalp Crandall Trichothiodystrophy Fragile, dull, short Brittle hair Disordered hair, scalp, eyebrows and Sabinas brittle hair syndrome eyelashes Pollitt syndrome Sulfur and cysteine deficient Amish hair-brain syndrome Copper–zinc ratio increased Wooly hair Abnormal from birth Epidermolytic palmoplantar Tight, curly Differs from other areas of scalp keratoderma Differs from family members Associated with ocular abnormalities Wooly hair syndrome Wooly hair nevus: other epidermal nevi apparent Spun glass hair Light silvery hair (lighter than expected); Uncombable hair syndrome Uncombable hair No pigment Inflexible hair; dry; easily breaks Glistening Teeth may have enamel defect Trichorrhexis invaginata Present at birth; can have red, scaly skin Netherton syndrome Bamboo hair Sparse; if present: short, dull, and breaks easily Soft abnormal hair wraps around firmer distal shaft of the hair shaft often is required to determine or and contrasting the findings. Perform a more in-depth confirm the diagnosis.12 Metabolic disorders, such as family history, focusing on hair and skin disorders. This hypothyroidism, also are associated with dry, brittle, may reveal additional relevant information. coarse hair. Abnormal hair characteristics are usually not iso- lated; they often occur as a constellation of findings. IMPLICATIONS FOR CLINICAL PRACTICE Systematically assess the infant, from head to toe, with special attention to additional abnormalities of the H air characteristics are inherited and both typical and atypical findings may be familial in nature. The clinician must be sensitive to the wide variation of skin, hair, nails, or other embryologically related struc- tures that arise from the neuroectoderm. Document abnormalities, noting the color, texture, normal scalp hair. In the delivery room, hair color configuration, and hairlines. Characterize abnormali- provides the family’s first glimpse into their infant’s ties as focal or localized, isolated, or diffuse. Carefully genetic makeup. Families often ask questions about the describe any other atypical associated features. inheritance of hair color and characteristics. Under- Changes in hair patterns over time may be diagnostic: standing the phases of hair growth, type of hair present detailed clinical photographs, obtained at the time of in the newborn period, the process of melanin produc- presentation, may aid the recognition of an emerging tion, and normal changes in hair color can assist the of evolving condition. clinician in providing explanations to the family. Explore known associations between physical find- Before attaching significance to any unusual hair ings using internet resources such as Online Mendelian feature, it should be evaluated within the context of Inheritance in Man (OMIM) or Jablonski’s Multiple the infant’s race and family characteristics.3 Initially, Congenital Anomaly/Mental Retardation (MCA/MR) this can be accomplished by discussing the newborn’s syndromes database (see Sidebar 1). Depending on the hair characteristics with the mother and comparing level of suspicion, a genetics consult may be appropri- Advances in Neonatal Care, Vol 3, No 6 (December), 2003: pp 286-296  ASSESSING NEWBORN SCALP HAIR CHARACTERISTICS 295 SIDEBAR 1. INTERNET RESOURCES FOR GENETICS Online Mendelian Inheritance in Man (OMIM) The Online Mendelian Inheritance in Man (OMIM) database is a catalog of known human genes, containing over 10,000 entries. Created at the Center for Medical Genetics at Johns Hopkins University, OMIM is available to users as a service of the National Center for Biotechnology Information (NCBI), a division of the National Library of Medicine. OMIM is intended for use by health care professionals interested in genetic disorders, genetic researchers, and advanced students of medicine and science. Clinicians who are faced with an infant with unusual features can access OMIM at Entrez PubMed (http:// www.ncbi.nlm.nih.gov/PubMed/entrez). Using OMIM is very similar to using PubMed. Enter one or more terms in the text box (for example, clinical feature of interest or name of a disorder or gene). From the list that is retrieved, click on the item in which you are interested, and you will receive information in the form of text, references, and links to other resources. Using the word and in the search will allow you to link 2 features. A nice feature for well-described disorders with a great deal of information is Mini-MIM, a link that provides an abbreviated version of the text. Multiple Congenital Anomaly/Mental Retardation Syndromes (MCA/MR) This online resource (also known as “Jablonski’s”) is useful in identifying and differentiating syndromes associated with multiple congenital anomalies and mental retardation, as well as X-linked and chromosomal aberrations that have syndrome characteristics. Jablonski’s provides both a summary of each syndrome and presenting clinical features. Jablonski’s can be accessed at http://www.nlm.nih.gov/mesh/jablonski/syndrome_db.html. ate to further evaluate the infant and family for dys- Magnetic resonance imaging (MRI) morphology, obtain a family pedigree, and recommend Chromosome analysis or probes for single gene additional diagnostic testing. Pediatric neurology, der- disorders matology, and metabolic consultations may also pro- Fluoresence in-situ hybridization (FISH) analysis vide useful perspectives and important diagnostic and Light microscopy evaluation of the hair shaft prognostic information. Hair or skin biopsy Some of the metabolic disorders that result in ab- Neogen screen or further specific testing for sus- normal hair characteristics (alopecia, abnormal hair pected metabolic disorders texture, and hypopigmentation) are screened system- atically by many state newborn screening panels. These Advanced knowledge of newborn hair and its po- include PKU, congenital hypothyroidism, homocystin- tential significance can greatly enhance the neonatal uria, and biotinidase deficiency. Every state, the Dis- caregiver’s assessment skills. A comprehensive, stan- trict of Columbia, and all Canadian provinces screen dardized assessment of the newborn’s hair is an impor- for PKU and congenital hypothyroidism; however, tant tool in the early recognition of genetic, metabolic, state screening panels for other disorders vary signifi- or neurologic disorders. cantly.19 Be aware of the tests included in your state’s newborn screening panel and the process by which REFERENCES results are reported to the infant’s medical care provid- 1. Mancini AJ. Structure and function of the newborn skin. ers. Follow up on outstanding test results. Consider In: Eichenfield LF, Frieden IJ, Esterly NB, eds. Textbook additional testing if conditions related to abnormal of Neonatal Dermatology. Philadelphia, Pa: WB Saunders; hair characteristics are not included in the standard 2002:18-32. state screening panel. 2. Rogers M. Hair disorders. In: Eichenfield LF, Frieden IJ, Infants nourished primarily with long-term hyperali- Esterly NB, eds. Textbook of Neonatal Dermatology. Phil- mentation are at risk for acquired metabolic or nutri- adelphia, Pa: WB Saunders; 2002:487-503. tional deficiencies, such as zinc, that can affect hair 3. Jones KL. Smith’s Recognizable Patterns of Human Malfor- growth and quality. A pediatric nutritionist or pediatric mation. 4th ed. Philadelphia, Pa: WB Saunders; 1988: gastroenterologist can be instrumental in diagnosing 662-681. and providing treatment for nutritional deficiencies. 4. Fletcher MA. Physical assessment and classification. In: There has been preliminary use of hair analysis as a Avery GB, Fletcher MA, MacDonald MG, eds. Neo- screening tool to diagnose genetic diseases on the basis natology: Pathophysiology and Management of the Newborn. of spectral differences. Infrared microspectroscopy can Philadelphia, Pa: Lippincott; 1994:301-320. detect G6PD deficiency and may be used as an adjunct 5. Moore KL, Persaud TVN. The Developing Human: Essen- diagnostic tool to serum and urine analysis.18 The tials of Embryology and Birth Defects. 5th ed. Philadelphia, following diagnostic studies may be useful to complete Pa: WB Saunders; 1998:482-496. evaluation of an infant with abnormal hair20: 6. Holbrook KA. Structural and biochemical organogenesis of Advances in Neonatal Care, Vol 3, No 6 (December), 2003: pp 286-296 296 FURDON AND CLARK skin and cutaneous appendages in the fetus and newborn. 14. De Jong G, Fryns JP. Oculocerebral syndrome with In: Polin RA, Fox WW, eds. Fetal and Neonatal Physiology. hypopigmentation (Cross Syndrome): the mixed pattern 2nd ed. Philadelphia, Pa: WB Saunders; 1998:729-751. of hair pigmentation as an important diagnostic sign. 7. Fletcher MA. Head and neck region. In: Physical Diag- Genet Counsel. 1991;2:151-155. nosis in Neonatology. Philadelphia, Pa: Lippincott-Raven; 15. McKusick VA, ed. OMIM. Available at: http://www. 1998:173-235. ncbi.nlm.nih.gov/Omim/. Accessed: August 1, 2003. 8. Rogers SL. The Colors of Mankind: The Range and Role of 16. Clark DA. Atlas of Neonatology. Philadelphia, Pa: WB Human Pigmentation. Springfield, Ill: Charles C Thomas Saunders; 2000:46-51. Publisher; 1990:3-19. 17. FG Syndrome Family Alliance, Inc. Available at: http:// 9. Sams WM Jr. Structure and function of the skin. In: Sams fg-syndrome.org. Accessed: July 31, 2003. WM Jr, Lynch PJ, eds. Principles and Practice of Dermatology. 18. Lin SY, Niu DM, Li MJ, Tu CP, Lin HL. Differentiation New York, NY: Churchill-Livingstone; 1990:3-14. of hair growth cycle from scalp hair roots for the diag- 10. Barth JH. Normal hair growth in children. Pediatr Der- nosis of glucose-6-phosphate dehydrogenase deficiency matol. 1987;4:173-184. in neonates. J Inherit Metab Dis. 2000;23:693-704. 11. Hair color. Available at: http://www.keratin.com. Ac- 19. Theorell C, Degenhardt M. Assessment and manage- cessed: July 31, 2003. ment of the metabolic system. In: Kenner C, Lott JW, 12. Ellis SS, Mallory SB. Hypopigmentation disorders. In: eds. Comprehensive Neonatal Nursing, A Physiologic Per- Eichenfield LF, Frieden IJ, Esterly NB, eds. Textbook of spective. Philadelphia, Pa: WB Saunders; 2003:486- Neonatal Dermatology. Philadelphia, Pa: WB Saunders; 530. 2002:353-369. 20. Theorell C, Montrowl S. Diagnostic processes. In: Ken- 13. Wunderlich RC, Heereman NA. Hair crown patterns of ner C, Lott JW, eds. Comprehensive Neonatal Nursing, A human newborns: studies on parietal whorl locations and Physiologic Perspective. Philadelphia, Pa: WB Saunders; their direction. Clin Perinatol. 1974;14:1045-1049. 2003:810-843. INFANT EXPOSURE TO TOBACCO SMOKE IN THE HOME Teaching parents not to smoke around their newborn should be a routine component of hospital discharge teaching. Second-hand or passive smoking is a significant hazard to children, raising the risk of sudden infant death, asthma, and respiratory tract infections and otitis media. Parents attempting to comply with this advice will often adopt protective strategies such as smoking in another room, opening car or room windows, using air filters or ionizers, or smoking outdoors. A recent study from the UK looked at the effectiveness of these strategies in reducing exposure of infants to environmental tobacco smoke.1 By measuring levels of cotinine, a metabolite of nicotine, in the urine of newborns in smoking households, the investigators found that only banning smoking from the home had a significant effect on urinary cotinine levels. Other, less strict harm reduction measures were no more effective than no measures at all in lessening infants’ exposure to tobacco smoke. REFERENCE 1. Blackburn C, Spencer N, Bonas S, Coe C, Dolan A, Moy R. Effect of strategies to reduce exposure of infants to environmental tobacco smoke in the home: Cross sectional survey. BMJ. 2003;327:257-260. Full text available online at http://bmj.com/cgi/content/full/327/7409/257. Accessed November 10, 2003. Advances in Neonatal Care, Vol 3, No 6 (December), 2003: pp 286-296