Pachyonychia congenita: A rare genodermatosis
Puneet Agarwal1, Mahendra K Chhaperwal, Apurva Singh
1Department of Skin and STD, Mahatma Gandhi Medical College, Jaipur, Rajasthan, India.
Indian Dermatology Online Journal
|August 29, 2013
Summary
Pachyonychia congenita (PC) is a rare genetic skin disorder. This case report details a patient diagnosed with PC Type 1, highlighting its clinical presentation and treatment response.
Area of Science:
- Dermatology
- Genetics
- Rare Diseases
Background:
- Pachyonychia congenita (PC) is a rare autosomal dominant genodermatosis, with fewer than 450 cases reported globally since 1906.
- PC presents in two main types: Type I, associated with mutations in KRT6A and KRT16 genes, and Type II, linked to KRT6B and KRT17 gene mutations.
- Clinical manifestations typically include nail dystrophy, palmoplantar keratoderma, and oral leukokeratosis, often with a significant impact on quality of life.
Observation:
- A 22-year-old female presented with lifelong symptoms of severe nail hypertrophy, palmoplantar keratoderma, oral punctate leukokeratosis, and hyperhidrosis with maceration.
- The patient had a positive family history, indicating autosomal dominant inheritance.
- Histopathological examination revealed acanthotic epidermis with parakeratosis and orthokeratosis, ruling out fungal infection and malignancy.
Findings:
- The patient was diagnosed with Pachyonychia congenita Type 1.
- Treatment involved topical steroids, oral acetretin, and nail debridement.
- Initial treatment showed improvement in palmoplantar and oral keratosis, with no adverse effects noted during the 3-4 month observation period.
Implications:
- This case underscores the importance of recognizing the clinical spectrum of Pachyonychia congenita, even in its rare presentations.
- Early diagnosis and symptomatic management can offer relief, although long-term follow-up is crucial.
- Further research into genetic factors and therapeutic interventions for PC is warranted due to its rarity and significant patient impact.
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