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What is Pachyonychia Congenita?
PC is an ultra rare genetic skin disorder caused by a single
mutation in any one of four keratin genes known as K6a, K6b, K16 or K17.
PC may be hereditary (inherited from a parent who has PC) or may be
spontaneous (a mutation occurs when no parent or other family member
has PC). Features of PC may include:
1 Thickened Nails (hypertrophic nail dystrophy or pachy-onychia)
2 Painful blisters and calluses on hands and feet (focal palmar and plantar hyperkeratosis)
3 Follicular hyperkeratosis (bumps around hairs at friction sites such as waist, hips, knees, elbows)
4 Leukokeratosis of the oral mucosa (white film on tongue, cheeks and sometimes larynx)
5 Cysts of various types (including steatocystoma and pilosebaceous cysts)
Other features include sores at the corner of the mouth (angular chelitis); teeth at or before birth (natal or pre-natal teeth); hoarse voice (laryngeal involvement). Note: PC children also may suffer Intense pain in/near the ears lasting 15-25 seconds often when beginning to eat (this may be connected with salivary glands rather than ears and more research is needed on this finding).
More About Pachyonychia Congenita --------- Myths About Pachyonychia Congenita
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