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Palmoplantar keratoderma with growth hormone deficiency
K V S Hari Kumar1, Altamash Shaikh, Ruchita Sharma
1Department of Endocrinology, Command Hospital, Lucknow - 226002, UP, India. hariendo@rediffmail.com
Journal of Pediatric Endocrinology & Metabolism : JPEM
|July 10, 2012
Summary
This study reports on monozygotic twin sisters with palmoplantar keratoderma and growth hormone deficiency. Researchers speculate a shared genetic mutation may cause both conditions, highlighting a rare syndromic association.
Area of Science:
- Genetics
- Endocrinology
- Dermatology
Background:
- Palmoplantar keratoderma (PPK) encompasses diverse disorders of palm and sole thickening, classified as focal or diffuse, and can be acquired or hereditary.
- Syndromic associations with PPK are documented across various inheritance patterns, though rare manifestations include skin/nail changes, malignancy predisposition, skeletal deformities, dwarfism, and enamel abnormalities.
Observation:
- This case report details monozygotic twin sisters presenting with palmoplantar keratoderma.
- Both twin sisters were also diagnosed with growth hormone deficiency.
Findings:
- The co-occurrence of palmoplantar keratoderma and growth hormone deficiency in monozygotic twins suggests a potential shared underlying etiology.
- A common genetic mutation is hypothesized to underlie these two distinct clinical presentations.
Implications:
- This case may offer insights into the genetic basis of rare PPK syndromes and growth hormone deficiency.
- Further research into shared genetic factors could elucidate novel pathways involved in both dermatological and endocrine development.
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