Pachyonychia congenita 2- MedGen UID:
- 314107
- •Concept ID:
- C1721007
- •
- Disease or Syndrome
Pachyonychia congenita (PC) is characterized by hypertrophic nail dystrophy, painful palmoplantar keratoderma and blistering, oral leukokeratosis, pilosebaceous cysts (including steatocystoma and vellus hair cysts), palmoplantar hyperhydrosis, and follicular keratoses on the trunk and extremities.
Hereditary hypotrichosis with recurrent skin vesicles- MedGen UID:
- 442697
- •Concept ID:
- C2751292
- •
- Disease or Syndrome
Hypotrichosis and recurrent skin vesicles (HYPTSV) is characterized by sparse to absent scalp hair, eyebrows, eyelashes, and body hair, as well as recurrent vesicles of scalp and skin. Some patients also exhibit trauma-induced blistering, and anomalies of dental enamel and of nails may be observed (Ayub et al., 2009; Onoufriadis et al., 2020).
Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome- MedGen UID:
- 902464
- •Concept ID:
- C4225381
- •
- Disease or Syndrome
A rare genetic skin disease characterized by generalized skin peeling, leukonychia, acral punctate keratoses coalescing into focal keratoderma on the weight-bearing areas, angular cheilitis and knuckle pads with multiple hyperkeratotic micropapules. The skin appears dry and scaly with superficial exfoliation and underlying erythema. Histopathologic examination of affected skin areas shows hyperkeratosis, acanthosis and intraepidermal clefting with irregular acantholysis. Additional systemic abnormalities are absent.
IFAP syndrome 2- MedGen UID:
- 1763502
- •Concept ID:
- C5436607
- •
- Disease or Syndrome
Follicular ichthyosis, atrichia, and photophobia syndrome-2 (IFAP2) is characterized by ichthyosis follicularis or follicular hyperkeratosis, sparse to no body hair, and photophobia with corneal lesions. Ultrastructural hair analysis shows trichorrhexis nodosa (Wang et al., 2020).
For a discussion of genetic heterogeneity of IFAP syndrome, see IFAP1 (308205).