Focal Palmoplantar Callosities in Non-Herlitz Junctional Epidermolysis Bullosa

February 2005 in “ Journal of the American Academy of Dermatology ”

Hiroshi Mitsui, Takahiro Watanabe, Mayumi Komine, Hiroyuki Nakamura, Hiroshi Shimizu, Kunihiko Tamaki

non-Herlitz junctional epidermolysis bullosa JEB-nH focal palmoplantar callosities blistering hair changes nail changes atrophic alopecia COL17A1 gene keratin mutations hyperkeratosis callosities alopecia COL17A1 keratin

TLDR Focal palmoplantar callosities may help diagnose non-Herlitz junctional epidermolysis bullosa.

The document described a case of a 41-year-old man with non-Herlitz junctional epidermolysis bullosa (JEB-nH) who presented with focal palmoplantar callosities, an unusual feature for this condition. The patient had lifelong symptoms including blistering, hair and nail changes, and atrophic alopecia. Genetic testing identified a homozygous mutation in the COL17A1 gene, confirming JEB-nH. The study proposed that focal palmoplantar callosities might be a clinical feature of JEB-nH, aiding in early diagnosis, and suggested a link between keratin mutations and hyperkeratosis, enhancing the understanding of JEB-nH's clinical manifestations.

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Related Research

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research Focal Palmoplantar Callosities in Non-Herlitz Junctional Epidermolysis Bullosa

5 citations , February 2005 in “Journal of the American Academy of Dermatology”

Focal palmoplantar callosities may help diagnose non-Herlitz junctional epidermolysis bullosa.

research Genetic Disorders of Keratin: Are Scarring Alopecias a Sub-Set?

14 citations , July 1994 in “Journal of Dermatological Science”

Keratin mutations may cause scarring alopecia by damaging hair structure.