Palmoplantar keratoderma, pseudo‐ainhum, and universal atrichia: A new patient and review of the palmoplantar keratoderma‐congenital alopecia syndrome

Abstract

Palmoplantar keratoderma (PPK) may concur with congenital alopecia (CA) in various genodermatoses. We report on a 10-year-old girl with generalized atrichia and a severe form of PPK causing pseudo-ainhum, sclerodactyly, and contractures, a phenotype not consistent with any well-defined condition. Non-specific additional findings comprised mild nail dystrophy and widespread keratosis pilaris including ulerythema ophryogenes. Direct sequencing of the GJB2 and LOR coding regions yielded normal results. A review identified two additional sporadic and four familial cases with PPK and CA. Comparison between familial cases suggested the existence of two genetically and phenotypically distinct types of PPK-CA: (i) an autosomal dominant form (Stevanović type), a variable and benign phenotype without significant hand complications, and (ii) a more complex autosomal recessive variant (Wallis type) with contractures, sclerodactyly, and pseudo-ainhum. Nuclear cataract may represent an additional although not constant finding in the Wallis type PPK-CA. Further reports are required to test this preliminary conclusion.

Mutilating keratoderma with concomitant alopecia and keratoses follicularis spinulosa decalvans: X-linked olmsted syndrome and its response to isotretinoin

“…The latter has an AD/AR inheritance and additionally has pseudoainhum. [ 3 ] In our case, the presence of KFSD [ Figure 1 ] in a male child helped to arrive at the diagnosis of XLO syndrome.…”

Clinical and molecular characterization of two patients with palmoplantar keratoderma-congenital alopecia syndrome type 2

“…Patient 2 (Fig. a–k) is a previously reported patient with PPKCA2 . She presented at the age of 10 years with total alopecia (onset at 4 months); widespread and marked KP with ulerythema ophryogenes; linear hyperkeratosis along the lateral and medial aspects of her palms and fingers, with desquamation, slow‐healing cracks and mild erythema particularly evident around her nails; sclerodactyly with contractures and initial pseudoainhum on her second and fifth fingers; and secondary nail dystrophy.…”

“…Both palmoplantar keratoderma (PPK) and congenital or early‐onset alopecia (CA) can be observed in various well‐defined conditions, including Clouston, Schöpf–Schulz–Passarge, Lelis, Olmested and keratitis–ichthyosis–deafness syndromes, as well as keratosis follicularis spinulosa decalvans, odonto–onycho–dermal dysplasia, and hypotrichosis–osteolysis–palmoplantar keratoderma–parodontitis. However, a few families present a distinct phenotype, provisionally termed palmoplantar keratoderma–congenital alopecia (PPKCA) syndrome . A review of 18 published cases suggests the existence of a mild form showing autosomal dominant transmission (Stevanović type or Type 1; PPKCA1) and a recessive form with a more severe hand involvement, including contractures, sclerodactyly and pseudoainhum (Wallis type or Type 2; PPKCA2) .…”

“…However, a few families present a distinct phenotype, provisionally termed palmoplantar keratoderma–congenital alopecia (PPKCA) syndrome . A review of 18 published cases suggests the existence of a mild form showing autosomal dominant transmission (Stevanović type or Type 1; PPKCA1) and a recessive form with a more severe hand involvement, including contractures, sclerodactyly and pseudoainhum (Wallis type or Type 2; PPKCA2) . Both variants may also present with nail changes, and with widespread and marked keratosis pilaris (KP) .…”

“…A review of 18 published cases suggests the existence of a mild form showing autosomal dominant transmission (Stevanović type or Type 1; PPKCA1) and a recessive form with a more severe hand involvement, including contractures, sclerodactyly and pseudoainhum (Wallis type or Type 2; PPKCA2) . Both variants may also present with nail changes, and with widespread and marked keratosis pilaris (KP) . Findings reported in single instances include nuclear cataract, meningocele and unilateral deafness .…”