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Image Number 895 (Palmoplantar keratoderma, hereditary)


Diagnosis: Palmoplantar keratoderma, hereditary

Site: Hand,palm

Sex: F

Age: 16

Type: Clinical

Description: patchy hyperkeratosis and hypertrophic nail dystrophy

Submitted by: Ebtisam Elghblawi

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Differential Diagnosis

History: PC is a very rare genetic disorder of keratinisation (autosomal dominant)that affects the nails, skin (especially palms and soles), oral mucosa and laryngeal mucosa, teeth, and hair. Our patient presented with history of patchy thickens palms and soles, associated subungual hyperkeratosis, yellowish-brown discolouration. These changes affected the 20 nails, and were developed earlier in life since birth. Moreover she develop painful blisters and callous on her feet which makes walking impossible and unbearable. These changes associated with hyperhidrosis, which yielded foul smelling; also she has aleopecia of scalp, eye brows, and eye lashes.Parents were both relatives; consanguinity marriage, though no one of them has the disease, this would mean either a free member or a carrier for the disease. And as she was the only family member known to be affected, suggesting that the condition could be attributed to a de novo mutation or the recessive form of PC.

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