Presentation
Perelman Department of Dermatology, New York University Abstract A 13-year-old boy and a 7-year-old boy, who are brothers, presented with a life-long history of erythema, hyperkeratosis, and desquamation of the hands and feet. [escholarship.org]
9589-6 Martin, Inherited palmoplantar keratoderma and sensorineural deafness associated with A7445G point mutation in the mitochondrial genome, Br J Dermatol, № 143, с. 876 https://doi.org/10.1046/j.1365-2133.2000.03797.x Caria, A7445G mtDNA mutation present [ouci.dntb.gov.ua]
Skin
- Erythema
The two brothers, were evaluated at New York University Medical Center's Dermatologic Associates in February 2000, with a life-long history of erythema and scale of the hands and feet. [escholarship.org]
Treatment
In milder cases, treatment with emollients, topical retinoids, keratolytics, and topical glucocorticoids has been used with some success. [escholarship.org]
Papillon‐Lefevre syndrome: a study of the long‐term clinical course of recurrent pyogenic infections and the effects of etretinate treatment Bergman, Bergman J. [deepdyve.com]
[…] option for hereditary punctate palmoplantar keratoderma (Brauer-Buschke-Fischer syndrome), J Am Acad Dermatol, № 71, с. e48 https://doi.org/10.1016/j.jaad.2014.01.909 Park, Alitretinoin: treatment for refractory palmoplantar keratoderma, Br J Dermatol [ouci.dntb.gov.ua]
Etiology
[…] hypohidrotic/anhidrotic ectodermal dysplasia cases, Hum Mutat, № 32, с. 70 https://doi.org/10.1002/humu.21384 Trzeciak, Molecular basis of hypohidrotic ectodermal dysplasia: an update, J Appl Genet, № 57, с. 51 https://doi.org/10.1007/s13353-015-0307-4 Itin, Etiology [ouci.dntb.gov.ua]