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]

• Heart Failure

  9, с. 2761 https://doi.org/10.1093/hmg/9.18.2761 Carvajal-Huerta, Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy, J Am Acad Dermatol, № 39, с. 418 https://doi.org/10.1016/S0190-9622(98)70317-2 Antonov, Early-onset heart [ouci.dntb.gov.ua]

• Periodontitis

  3083.2005.01087.x Hayashi, Identification of a recurrent mitochondrial mutation in a Japanese family with palmoplantar keratoderma, nail dystrophy, and deafness, Eur J Dermatol, № 25, с. 79 https://doi.org/10.1684/ejd.2014.2461 Janjua, Dermatologic, periodontal [ouci.dntb.gov.ua]

  The Papillon‐Lefevre syndrome: neutrophil dysfunction with severe periodontal disease Dyke, Dyke; Taubman, Taubman Immunological study of patients with the Papillon‐Lefevre syndrome Levo, Levo; Wollner, Wollner; Hacham‐Zadeh, Hacham‐Zadeh. [deepdyve.com]

• Palmoplantar Keratosis

  The hereditary palmoplantar keratosis: An updated review and classification. Br J Dermatol 1994;131:1. 2. Kimyai-Asadi A, et al. The molecular basis of hereditary palmoplantar keratodermas. J Am Acad Dermatol 2002;47:327. 3. Fluckiger R, et al. [escholarship.org]

  keratosis of the Gamborg Nielsen type. [deepdyve.com]

  keratosis, Nat Genet, № 23, с. 421 https://doi.org/10.1038/70525 Soler, Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis, J Med Genet, № 50, с. 246 https://doi.org/10.1136/jmedgenet-2012-101325 Mamai [ouci.dntb.gov.ua]

• Hyperkeratosis

  Comment The hereditary palmoplantar keratodermas (PPK) are a heterogeneous group of disorders characterized by hyperkeratosis of the palms and soles. [escholarship.org]

  Hyperkeratosis. periodontosis and chronic pyogenic infections in a 15‐year‐old boy. Part 2 Shams El Din, Shams El Din; Benton, Benton; Bottomley, Bottomley. [deepdyve.com]

  //doi.org/10.1126/science.257.5073.1128 Müller, A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis, Hum Mol Genet, № 15, с. 1133 https://doi.org/10.1093/hmg/ddl028 Sybert, Cyclic ichthyosis with epidermolytic hyperkeratosis: a [ouci.dntb.gov.ua]

• Keratosis

  Thost's family revisited 100 years later Küster, Küster; Becker, Becker Keratosis extremitatum hereditaria progrediens mit dominantem Erbgang Greither, Greither Keratosis palmo‐plantaris progrediens hereditaria mit dominantem Erbgang Grin, Grin; Salamon [deepdyve.com]

  The hereditary palmoplantar keratosis: An updated review and classification. Br J Dermatol 1994;131:1. 2. Kimyai-Asadi A, et al. The molecular basis of hereditary palmoplantar keratodermas. J Am Acad Dermatol 2002;47:327. 3. Fluckiger R, et al. [escholarship.org]

  […] nonsense mutation of the CTSC gene causes two clinically distinct phenotypes, Clin Exp Dermatol, № 41, с. 190 https://doi.org/10.1111/ced.12710 Toomes, Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis [ouci.dntb.gov.ua]

• Alopecia

  and cutaneous abnormalities associated with a novel compound heterozygous mutation in desmoplakin, Pediatr Dermatol, № 32, с. 102 https://doi.org/10.1111/pde.12484 Tekin, Alopecia, palmoplantar keratoderma, skin fragility and follicular hyperkeratoses [ouci.dntb.gov.ua]

  Hidrotic ectodermal dysplasia—Clouston's family revisited Williams, Williams; Fraser, Fraser Hidrotic ectodermal dysplasia Rajagopalan, Rajagopalan; Hai Tay, Hai Tay Clouston syndrome: a rare autosomal dominant trait with palmoplantar hyperkeratosis and alopecia [deepdyve.com]

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]

[…] 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]