Bart–Pumphrey syndrome
Encyclopedia
Bart–Pumphrey syndrome is a cutaneous condition characterized by hyperkeratoses (knuckle pads) over the metacarpophalangeal and proximal and distal interphalangeal joints.
It was characterized in 1967.
It can be associated with GJB2
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It was characterized in 1967.
It can be associated with GJB2
GJB2
Gap junction beta-2 also known as connexin-26 is a protein that in humans is encoded by the GJB2 gene. Defects in this gene lead to the most common form of congenital deafness in developed countries, called DFNB1, also known as Connexin 26 deafness or GJB2-related deafness.- Function :Gap...
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See also
- Camisa diseaseCamisa diseaseCamisa disease is the variant form of Vohwinkel syndrome, characterized by ichthyosis and normal hearing.It is associated with loricrin.It was characterized in 1984 and 1988....
- List of cutaneous conditions
- Bart syndromeBart syndromeBart syndrome is a genetic disorder characterized by the association of congenital localized absence of skin, epidermolysis bullosa, lesions of the mouth mucosa, and dystrophic nails.-Genetics:...
- Palmoplantar keratodermaPalmoplantar keratodermaPalmoplantar keratodermas are a heterogeneous group of disorders characterized by abnormal thickening of the palms and soleAutosomal recessive and dominant, X-linked, and acquired forms have all been described.There are also acquired forms of the condition....