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 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 کاملSegmental neurofibromatosis: a rare variant of a common genodermatosis.
Segmental neurofibromatosis is a rare disorder characterized by features of neurofibromatosis type 1 circumscribed to a particular body segment. This entity is considered to be the result of a somatic mosaicism and is still under-diagnosed. We report a case of segmental neurofibromatosis and give a brief and up-to-date overview of the disease.
متن کاملIncontinentia pigmenti: a rare genodermatosis in a male child.
Incontinentia pigmenti is rare X-linked dominant disorder. There is no consistent expression of Incontinetia pigmenti in female child, but in male child, they always lead to death in utero. Vesicular, verrucous, hyperpigmented, and atrophic stages are the four stages of Incontinetia Pigmenti and it is uncommon for all stages to be seen in a same case. It is a rare genodermatosis, with only very...
متن کاملXeroderma Pigmentosum-A Rare Genodermatosis: Overview of Literature
Xeroderma pigmentosum is a rare genodermatosis, autosomal recessive in nature in which excessive ultraviolet radiation causes skin, ocular, neurological, and oral lesions along with development of cutaneous and internal malignancies at an early age. There is no definitive cure for the disease. Avoidance of ultraviolet radiation, use of protective clothing, sunscreens, oral retinoids, 5-fluorour...
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ژورنال
عنوان ژورنال: IP Journal of Diagnostic Pathology and Oncology
سال: 2019
ISSN: 2581-3714,2581-3706
DOI: 10.18231/j.jdpo.2019.032