Genodermatose122.docx

Genodermatoses Female child with dermoid cyst: If in midline MRI If in lateral eyebrow no investigation Picture of female child looks old the defect is (AR if cockyne and AD if progeria) AD AR XLD XLR Note: microcephaly is cockayne / large head is progeria Progeria…AD …. LMNA gene cockayne…AR...

Genodermatoses Female child with dermoid cyst: If in midline MRI If in lateral eyebrow no investigation Picture of female child looks old the defect is (AR if cockyne and AD if progeria) AD AR XLD XLR Note: microcephaly is cockayne / large head is progeria Progeria…AD …. LMNA gene cockayne…AR… ercc8, ercc6 Old featured girl picture gene mutation a. Fibulin 5in cutislaxa b. fibroblast growth factor Scaly erythematous ski lesions+ hair defect distal enter in proximal gene defect (Netherton) األجابه الى تيجى صح LEKT1 or 5 SPINK a. b. FAID H Patient had defect SPRED1 most common (Legius syndrome) Neurofibroma Optic glioma Renal cell carcinoma Macrocephaly Note: if lipoma present Lesion in child head small as aplasia cutis what the defect a. Brain ectopic tissue/ neural tube defect Multiple yellowish papule in neck and axilla and angoidstreaks (PXE) Aspirin Simvastatin ttt if CVS involved Steroid Stop smoking prophylactic CVS not involved may be right Cancer colon in father and 2 sons and one son is normal incidence Zero b. 25% c. 50% d. 100% Picture of AR inheritance with lentigo which syndrome?? Tays AR (Like TTD without photosensitivity and normal gonads) Carney Pinpk syndrome Blender syndrome AD Picture of striated nail (darrier) a. AD AR XLD XLR Darrier exacerbated by a. Lithium Ichthyosis +MR + deafness (Mednik Syndrome) Keratitis with KID syndrome but no MR Enteropathy + peripheral neuropathy MEDNIK (MR-enteropathy- deafness-neuropathy-ichthyosis-keratoderma) Father + Mother are normal but baby has syndrome incidence Zero b. 25% c. 75% d. 100% Pigmentation in all body not in mucous membrane what syndrome Peutzjeugher Cornhite Canada Syndrome (pigmentation all body + mm + Git polyposis) Huziquer syndrome Leopard syndrome if not present Cowden syndrome تصحيح Ichthyosis with low estradiol AR AD XLD XLR Papule on mandibulae investigations (popular sarcoidosis) Ca ACEI Lamellar ichthyosis a. AR Picture of axillary erythematous skin papules associated with a. Medulloblastoma b. Cardiac problems If like picture Gorlin syndrome PXE associated with Cardiomyopathy Peripheral vascular disease Peripheral claudication PPK+ cancer mucous membrane affection (Howel Evans syndrome) XLR XLD AD AR Hailey and Hailey: Diagnosis (case of erythematous vesicular lesion with acantholysis mother & daughter with bad odor in intertriginous, flaccid vesicles) Investigations histopathology (acantholysis with supra-basal cleft and depilated brick wall, mild dyskeratosis &DIF is negative) Management…Minocycline Picture of nails hyperkeratotic with history of father and daughter what ttt: a. Acitretin b. Topical steroid Picture of a man with café au lait macules + lesion on scapula the most associated anomalies (Mccune Albright syndrome) Scoliosis Lung deformity Creatine kinase enzyme found in a. Dermatomyositis Child with atopy + developmental retardation + ichthyosis what is the syndrome a. Sjogren Larsson b. Netherton Child with Langerhans cell histiocytosis refer to Ophthalmologist Neuro Pediatric Orthopedic Description of a case ???Grover’s disease asks about type of lesion Popular Papulovesicular Vesicular Sjogren Larsson syndrome (MR + ichthyosis + spastic paraplegia) Picture of hand with PPK type of keratin a. K9 K10 K5 Type of cataract in atopic dermatitis a. More common post subcapsular b. More specific ant subcapsular Stimulation of KCs cycle a. IL1 b. TNF Case of Hailey-Hailey disease (mother and her daughter with axillary erosion and bad smell), what is histopathology? Acantholysis with dyskeratosis if Grover’s disease Acantholysis without dyskeratosis Case of multiple bcc with milia: Gorlin Rombo Basex (milia with trichoepithelioma and hypohydrosis) PPK (focal+ mucous patches on mouth and tongue) what’s inheritance? AD Tumor on nose as SCC or keratoacanthoma (Muir Torre syndrome)/ Mismatch repair gene: 1 2 3 4 Picture of small girl has small yellow nodule on scalp, what is another site for this lesion? Eye Liver Brain Lung Picture of old man has multiple brown patches on back and hyper keratotic palmoplantar and oral. Gorlin Darrier Picture of palms [PPK] since birth what type of keratin K6 K1 K9 Skin lesion described (hyperpigmentation) with polyposis in colon no mm affection a. Cowden disease The parent’s phenotype appears normal and the son has a disease ratio of occurrence in other siblings a. 25 % b. 50 % Picture mutation gene periorbital edema and sagged cheeks a. Fibulin 5 if Cutis laxa b. ABCC6 gene if PXE Yellowish discoloration of all toe nail associated with Liver disease Lung disease GIT disease Renal Eye Girl with dark pigmentation on lip and his father and two sisters has history of colon cancer and one sister is normal what percentage of transmission to her siblings: 0 % b. 50 % c. 100 % d. 10 % Ichthyosis since birth + mental retardation = If with atopy / Netherton syndrome If with spastic paraplegia / Sjogren Larsson syndrome If with enteropathy + neuritis / MEDNIK syndrome Hailey-Hailey disease histopathology discerption: acantholysis with dyskeratosis most common site a-Axilla Female with bifid upper 3 rib and hemivertebra in upper 3, What is the gene defect? a. Gorlin-Goltz syndrome /PTCH1 /AD Ch9 Picture of the baby 8 months with syndrome & developmental delay (Netherton syndrome) will have Food allergy. if erythematous it is Netherton Keratitis (if with Dry or scratching & MR it might be Sjogren Larsson syndrome.) Muscle weakness N.B no atopy or hair abnormalities were in answers Child has syndrome and his father and mother are normal percentage of his brother has same lesion (AR) 0 25 50 A girl with lesion beside lat canthus associated with Developmental delay Tonic clinic convulsions Contralateral motor seizure Decreased IQ Male patient 44 years old has dark red itchy lesion on arms and buttocks what is the cause AIDS Wilson disease Cokayne syndrome Vit A deficiency Female with uterine bleeding this lesion is desmin and smooth muscle positive: gene defect Telomer Krebs cycle Enzyme Baby having hypotrichosis and atopy and scaly skin his parents are normal what are the chances that the NEXT sibling while be diseased??? zero 25 50 Gingival papules of Cowden investigation a. Neck exam or thyroid scan Note: if not mentioned choose breast Type of renal cancer in birt hug dube a. Chromophobe Rash and cardiomegaly biologic hyper- eosinophilic syndrome Imatinib histopathological picture of steatocytoma ass with a. Pachyonychia congenita Subungual hyper keratosis of toe nail and focal PPK and mucous patch on tongue. (pachyonychia congenita) AD AR XLR XLD Picture of nail in boy and similar condition in his sister with high TSH and low T3, T4 asking about TTT Acitretin Fluconazole Note: if diagnosis is chronic mucocutaneous candidiasis with hypothyroidism (AR) so ttt is antifungal Other possible diagnosis: Hyperhidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia is a rare condition characterized by alopecia (hair loss); nail dystrophy (abnormal development of the nails); ophthalmic complications; (primary hypothyroidism); hypohidrosis;(freckles); enteropathy, and respiratory tract infections due to ciliary dyskinesia. it is thought to be inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive. Which of these granulomatous lesions in Not ass with cholesterol clefts? a. Necrobiosis lipoidica and JXG