منابع مشابه
Pachyonychia congenita: A rare genodermatosis
Pachyonychia congenita (PC) is a rare genodermatosis with only 450 cases reported since 1906. It is of two types, type I due to mutation in genes 6a and 16, and 6b and 17 in type II with an autosomal dominant inheritance in both types. A 22 yr old female patient presented in our OPD with hypertrophy of finger and toe nails, palmoplantar keratoderma, oral punctuate leukokeratosis, hyperhidrosis ...
متن کاملA young girl with H syndrome and coeliac disease
H syndrome is an autosomal recessive genodermatosis with reports dating back to the last decade. This syndrome is caused by mutations in the SCL29A3 gene. The clinical characteristics of this syndrome consist of dermatological manifestations, including hyperpigmented, hypertrichotic, and indurated patches and plaques. It affects various systems by causing heart anomalies, hepatosplenomegaly, hy...
متن کاملa child with h syndrome
introduction h syndrome (omim 612391) is an autosomal recessive disease with some features such as hyperpigmentation, hypertrichosis, heart anomalies, hepatosplenomegaly, hearing deficit, hypogonadism, short stature, flexion contracture of fingers and toes and hypertriglyceridemia. case presentation a 17-year-old boy with hyperpigmented, hypertrichotic and indurated seborrheic keratosis-like cu...
متن کاملMichelin tyre baby: a rare genodermatosis.
A 8-month-old female baby presented with cushingoid facies, with large skin folds involving the extremities and trunk since birth (Fig. 1). The child was born to healthy parents in a non-consanguineous marriage. The child weighed 8 kgs, was exclusively breast fed and developmentally normal and had no dysmorhic features. There was no history of similar complaints in other family members. Serum c...
متن کاملIncontinentia pigmenti or Bloch-Sulzberger syndrome: a rare X-linked genodermatosis*
Incontinentia pigmenti is a rare X-linked genodermatosis that affects mainly female neonates. The first manifestation occurs in the early neonatal period and progresses through four stages: vesicular, verruciform, hyperpigmented and hypopigmented. Clinical features also manifest themselves through changes in the teeth, eyes, hair, central nervous system, bone structures, skeletal musculature an...
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ژورنال
عنوان ژورنال: Cureus
سال: 2018
ISSN: 2168-8184
DOI: 10.7759/cureus.2763