Hereditary Palmoplantar Keratoderma: A Rare Case Report—Pachyonychia Congenita

Elghblawi Ebtisam

Disclosures

Dermatology Nursing. 2009;21(6):351-353. 

In This Article

Discussion

This young girl had the illness since birth; although her parents were both relatives (consanguinity marriage), neither of them has the disease. She was the only family member known to be affected with PC, suggesting that the condition could be attributed to a de novo mutation or the recessive form of PC. As she was only 10 years old, this would not indicate the type of PC because steatocystoma develops with or after puberty. (Steatocytoma is a form of pilosebaceous tumor consisting of dermal cysts and nodules. It presents as yellowish nodules over the anterior neck, chest, trunk, axillary region, and upper abdomen.) Few cases (approximately 250) of PC are reported in the medical literature due to the rarity of the disease. There were no previous cases reported from Libya. The author claims this case to be the first reported case of PC from Libya.

Pachyonychia congenita may present more within families of consanguine marriage where a parent is the carrier of a defective gene, and the full presentation appears later in the offspring. Sometimes genetic mutation may occur where a single case emerges in a family without a prior known history. Successful targeted therapies are still currently lacking and only directed at the explicit manifestation per se; therefore, genetic counseling is advised to avoid such conditions.

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