| E-IJD CASE REPORT |
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| Year : 2015 | Volume
: 60
| Issue : 4 | Page : 421 |
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Ectodermal dysplasia-skin fragility syndrome: A rare case report
Subhash Kashyap1, Vinay Shanker1, Neelam Sharma2
1 Department of Dermatology, Indira Gandhi Medical College, Shimla, Himachal Pradesh, India
2 Department of Pathology, Indira Gandhi Medical College, Shimla, Himachal Pradesh, India
Correspondence Address:
Dr. Subhash Kashyap
Department of Dermatology, Indira Gandhi Medical College, Shimla, Himachal Pradesh - 171 001
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/0019-5154.160525
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Ectodermal dysplasia/skin fragility syndrome (ED-SFS) is a newly described autosomal recessive disorder characterized by skin fragility and blistering, palmoplantar keratoderma, abnormal hair growth, nail dystrophy, and occasionally defective sweating. It results from mutations in the PKP1 gene encoding plakophilin 1 (PKP1), which is an important component of stratifying epithelial desmosomes and a nuclear component of many cell types. Only 12 cases of this rare genodermatosis have been reported so far. We present an unusual case of ED-SFS in a 12-year boy who was normal at birth but subsequently developed skin fragility, hair and nail deformities, abnormal dentition, palmoplantar keratoderma, and abnormal sweating but no systemic abnormality. |
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