Palmoplantar keratoderma congenital alopecia syndrome Q80.3

Huriez 1968

Very rare (<30 known patients) distinct congenital genodermatosis characterized by universal alopecia since birth (Castori M et al. 2016). During the first years of life additional palmoplantar keratoses develop which spread to the fingertips and the lateral edges of the hands and feet. As the disease progresses, scleroderma-like skin sclerosis develops on the hands and feet, contractures and constrictions.

There is also keratosis follicularis and facial erythema.

A distinction is made between 2 forms of disease:

• PPKCA1 syndrome (autosomal-dominant inheritance)
• PPKCA2 syndrome (autosomal recessive inheritance)

Detectable mutations in type 1 are in the GJA1 gene, which encodes connexin43 (Cx43) (Srinivas M et al 2019).

1. Bhatia KK et al (1989) Keratoma hereditaria mutilans (Vohwinkel's disease) with congenital alopecia universalis (atrichia congenita). J Dermatol 16:231-236.
2. Castori M et al (2016) Clinical and molecular characterization of two patients with palmoplantar keratoderma congenital alopecia syndrome type 2 Clin Exp Dermatol 41:632-635.
3. Richey PM et al. (2019)Resolution of pseudoainhum with acitretin therapy in a patient with palmoplantar keratoderma and congenital alopecia. JAAD Case Rep. 2019 5:219-221.
4. Srinivas M et al (2019) . Connexin43 mutations linked to skin disease have augmented hemichannel activity. Sci Rep 9:19.
5. Wang H et al (2015) Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome. Hum Mol Genet 24:243-250.