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Updated: May 31, 2026

Assessing Signaling Properties of Ectodermal Epithelia During Craniofacial Development

Assessing Signaling Properties of Ectodermal Epithelia During Craniofacial Development

Published on: March 24, 2011

Ectodermal dysplasia-skin fragility syndrome.

Vijay S Adhe¹, Atul M Dongre, Uday S Khopkar

¹Department of Dermatology, Seth GS Medical College and King Edward Memorial Hospital, Mumbai, Maharashtra, India. drvijay061@gmail.com

Indian Journal of Dermatology, Venereology and Leprology

|July 6, 2011

Summary

Ectodermal dysplasia-skin fragility (EDSF) syndrome, a rare genetic disorder, results from PKP1 gene mutations affecting desmosomes and skin integrity. This report details the first Indian case of EDSF in a child with characteristic skin and hair abnormalities.

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Area of Science:

Genetics
Dermatology
Cell Biology

Background:

Ectodermal dysplasia-skin fragility (EDSF) syndrome is a rare inherited disorder characterized by defects in desmosomes.
It arises from loss-of-function mutations in the PKP1 gene, leading to impaired desmosomal adhesion and epidermal integrity.

Observation:

A 2-year-old Indian male presented with palmoplantar hyperkeratosis, fissuring, sparse/easily pluckable scalp hair, nail dystrophy, and skin erosions.
Skin biopsy revealed epidermal hyperplasia and widened intercellular spaces.
Developmental milestones were delayed, but cognitive function was normal.

Findings:

The patient's presentation and biopsy findings are consistent with Ectodermal dysplasia-skin fragility (EDSF) syndrome.
Genetic analysis confirmed a loss-of-function mutation in the PKP1 gene.
This case represents the first reported instance of EDSF syndrome in India.

Implications:

This case expands the geographic and clinical understanding of Ectodermal dysplasia-skin fragility (EDSF) syndrome.
Highlights the importance of early diagnosis and genetic testing for PKP1 mutations in infants with similar dermatological and hair abnormalities.
Contributes to the limited global literature on this rare genetic disorder.