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Two cases of focal dermal hypoplasia and analysis of the PORCN gene mutation
Author(s): 
Pages: 543-547
Year: Issue:  9
Journal: Journal of Clinical Dermatology

Keyword:  hypoplasiadermalfocalPORCN genechild;
Abstract: Objective:To study the clinical and genetic characteristics of focal dermal hypoplasia(FDH). Methods:Clinical data of two cases of FDH children were collected to study FDH skin manifestations and pathological features. DNA was extracted for PORCN mutation analysis. Results: Both patients were females and born with the disease. Their skin lesions were characterized by focal skin atrophy and thinning,papillomatous hyperplasia on the lips and around the anus(yellow-red or red colore), with hyperpigmentation or hypopigmentation along Blaschko lines. Syndactyly,ectrodactyly, and "lobster claw" were seen in case one. Skin biopsies showed an upward extension of the adipose tissue, and reductions in appendages and collagen fiber. One case had a c.1186C>T mutation of the PORCN gene, resulting in a substitution of p.R396 x. The other case showed a c.808-811 GGGG deletion, resulting in a frameshift mutation. The mutation is a novel one which has not been reported yet. Conclusions: The diagnosis of focal dermal hypoplasia is mainly based on the typical clinical and histopathological findings,and PORCN gene mutations occurs in FDH.
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