(Figure 2.36B, C) - AD, ATP2A2 gene mutation, encodes SERCA2 (sarcoendoplasmic reticulum calcium ATPase)
- Presents with hyperkeratotic papules coalescing into warty plaques in a seborrheic distribution
- Acrokeratosis verruciformis of Hopf: verrucous papules on dorsum of hands
- Palmar keratosis/pits
- Nails: red and white alternating longitudinal bands, V-shaped nicks at distal nail plate, subungual hyperkeratosis
- Oral: cobblestoning of oral and anogenital mucosa
- Histology: acantholysis with corp ronds and grains
| | Figure 2.36
A: Retinitis pigmentosa
(Reprint from Hoffman GF,
Zschocke J, Nyhan WL.
Inherited Metabolic Diseases.
Berlin: Springer; 2010)
B: Darier disease
(Courtesy of Dr. Paul Getz)
C: Darier disease
(Courtesy of Dr. Paul Getz) |
|
