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Jadassohn Lewandowsky Syndrome: A Rare Entity.

Anupama Manohar Prasad¹, Yugandar Inakanti¹, Shiva Kumar¹

¹Department of DVL, P.E.S. Institute of Medical Sciences and Research, Kuppam, Andra Pradesh, India.

Indian Journal of Dermatology

|November 6, 2015

Summary

Pachyonychia congenita (PC) is a rare genetic skin disorder causing nail and skin thickening. This case report details a 9-year-old male patient presenting with characteristic PC symptoms since birth.

Keywords:

Jadassohn–Lewandowski syndrome keratins nails pachyonychia congenita palmoplantar keratoderma

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Area of Science:

Dermatology
Genetics
Rare Diseases

Background:

Pachyonychia congenita (PC) is a rare autosomal dominant genodermatosis.
Characterized by nail and palmoplantar hyperkeratosis, oral leukokeratosis, and cysts.
Classically subdivided into PC-1 (KRT6A/KRT16 mutations) and PC-2 (KRT6B/KRT17 mutations).

Purpose of the Study:

To report a case of Pachyonychia congenita in a pediatric patient.
To highlight the clinical presentation of a rare genodermatosis.
To contribute to the understanding of PC variants and their genetic basis.

Main Methods:

Case report of a 9-year-old male patient.
Clinical examination and review of patient history.
Description of presenting symptoms and physical findings.

Main Results:

The patient presented with thickened, discolored nails since birth.
He exhibited raised, spiny skin lesions across the body.
Focal plantar keratoderma and absence of natal teeth were also noted.

Conclusions:

The reported case aligns with the clinical spectrum of Pachyonychia congenita.
This presentation emphasizes the importance of recognizing diverse genodermatosis manifestations.
Further research into specific gene mutations is crucial for understanding PC subtypes.