Dermatology Flashcards
mode of inheritance of pachyonychia congenita
autosommal dominant
pachyonychia congenita gene mutation
KRT 6A,6B,6C,16,17
three most prominent clinical features in pachyonychia congenita
focal palmar hyperkeratosis
plantar pain
thickned toe nails
types of pachyonychia congenita
type 1- jaddasson lewandowsky syndrome- KRT 6A,16 mutation
type 2 - jackson lawler syndrome - KRT 6B/17
clinical features of pachyonychia congenita
palmoplantar keratoderma
thickned toe nails
plantar pain
folicular hyperkeratosis
natal teeth
oral leukokeratosis
palmoplantar hyperhydrosis
epidermal origin cyst- steatocystoma multiplec
laryngeal involvement- hoarsness
management of pachyonychia congenita
topical
oral
other
1.topical- keratolytic, emollients
2.oral - retinoids (controversial),rapamycin, siRNA against KRT gene under study
3.other- nail- filing, clipping,avulsion
cyst- excision
orthothics and footwear
Angioid streak in eye is seen in
Pseudoxanthoma elasticum
Sickle cell anaemia
Pagets disease
Familial tumour all calcinosis
MUTATION IN PXE
ABCC6
Mode of inheritance in PXE
Autosomal recessive
Cutaneous and systemic findings in PXE
Skin - yellowish papules coalescing to form plaques - soft ,lax wrinkled skin
Eye- angioid streak, Pead d orange appearance of retina
Cardiovascular- calcium deposition in intima and media, pericardium and endocardium,early atherosclerosis, cardiomegaly
GIT- upper gi bleed
Site and nature of skin lesions in PXE
Site- side of neck, between clavicles, axils, abdomen, groin, perineum, thighs
Skin lesions- yellowish papules collapsing to form plaques giving a lax skin appearance
Special name for skin lesion appearance in PXE
Plucked chicken skin appearance, cobblestone appearance, Moroccan leather appearance, chicken skin appearance
Diagnostic criteria for PXE
Major:
Skin- yellowish papules
