Presentation
The keratin granules are enlarged and present as of the spinous layer. [scielo.br]
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]
Entire Body System
- Falling
Dyskeratosen Brünauer, Brünauer Keratosis palmo‐plantaris striata Siemens, Siemens Erbliche Verhornungsstörungen der Haut Schnyder, Schnyder; Klunker, Klunker Kératodermie palmoplantaire variante Baes, Baes; Beukelaar, Beukelaar; Wachters, Wachters Ein Fall [deepdyve.com]
Jaw & Teeth
- 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]
Skin
- 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]
Gamborg Nielsen, Gamborg Nielsen Mutilating palmoplantar keratoderma Gamborg Nielsen, Gamborg Nielsen Hereditary palmoplantar keratosis of the Gamborg Nielsen type. [deepdyve.com]
Father and daughter cases of Vörner type hereditary palmoplantar keratosis: biochemical analysis of stratum corneum and effect of oral retinoid therapy. Japanese Journal of Dermatology 1982; 92:751-756. CorrespondenceRafael Lenzi Tarnowsky R. [scielo.br]
and histochemical findings, Oral Surg Oral Med Oral Pathol, № 53, с. 473 https://doi.org/10.1016/0030-4220(82)90460-1 Kolde, Focal palmoplantar and gingival keratosis: a distinct palmoplantar ectodermal dysplasia with epidermolytic alterations but lack [ouci.dntb.gov.ua]
- 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]
- Dermatitis
Schlipf, Whole-exome sequencing identifies novel autosomal recessive DSG1 mutations associated with mild SAM syndrome, Br J Dermatol, № 174, с. 44 https://doi.org/10.1111/bjd.14079 Has, Loss of desmoglein 1 associated with palmoplantar keratoderma, dermatitis [ouci.dntb.gov.ua]
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]
The patient opted to just continue under dermatological observation, without any local or systemic treatment. [scielo.br]
[…] 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]