2019, Number 1
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Rev Cent Dermatol Pascua 2019; 28 (1)
Palmoplantar keratoderma dotted variety in a Mexican family
Domínguez-Gómez MA, Ramos-Garibay JA, Díaz-Noriega AK
Language: Spanish
References: 16
Page: 20-24
PDF size: 174.42 Kb.
ABSTRACT
Palmoplantar keratodermias (PPQ) are a type of dermatosis that can be inherited or acquired; they are clinically characterized by an abnormal thickness of the skin on the palms and soles caused by excessive keratin. In this article we present the case of a Mexican family with seven affected individuals due to the autosomal dominant inheritance with incomplete penetrance of this disease.
REFERENCES
Arnold Jr. HL, Odom RB, James WD. Andrews’ diseases of the skin: clinical dermatology. 8th ed. Philadelphia: WB Saunders; 1990. pp. 1223-1229.
Bolognia JL, Jorizzo JL, Rapini RP. Dermatology. New York: Mosby, 2003. pp. 809-810.
Has C, Technau-Hafsi K. Palmoplantar keratodermas: clinical and genetic aspects. J Dtsch Dermatol Ges. 2016; 14: 123-139. http://onlinelibrary.wiley.com/doi/10.1111/ddg.12930/abstract.
Emmert S, Küster W, Hennies HC, Zutt M, Haenssle H, Kretschmer L et al. 47 patients in 14 families with the rare genodermatosis keratosis punctata palmoplantaris. Buschke-Fischer-Brauer. Eur J Dermatol. 2003; 13: 16-20.
Kelsell DP, Stevens HP, Ratnavel R, Bryant SP, Bishop DT, Leigh IM et al. Genetic linkage studies in non-epidermolytic palmoplantar keratoderma: evidence for heterogeneity. Hum Mol Genet. 1995; 4: 1021-1025.
Davies-Colley N. Disseminated clavus of hands and feet. Trans Pathol Soc. 1879; 30: 451-453.
Stevens HP, Kelsell DP, Leigh IM, Ostlere LS, Mac Dermot KD, Rustin MH. Punctate palmoplantar keratoderma and malignancy in a four-generation family. Br J Dermatol. 1996; 134: 720-726.
Ena P, Cottoni F, Cerimele D, Saccabusi S, Retanda G. Association of keratoderma punctate palmaris et plantaris with other morbid conditions (early grayness, carcinoma of the colon). Study of 3 families. G Ital Dermatol Venereol. 1986; 121: 45-54.
Martinez-Mir A, Zlotogorski A, Londono D, Gordon D, Grunn A, Uribe E et al. Identification of a locus for type I punctate palmoplantar keratoderma on chromosome 15q22-q24. J Med Genet. 2003; 40: 872-878.
Xue-Jun Zhang, Ming Li, Ping-Ping He, Sheng-Cai Wei, Jiang Bo Liu, Cheng-Rang Li et al. Identification of a locus for punctate palmoplantar keratodermas at chromosome. 8q24.13-8q24.21. J Invest Dermatol. 2004; 122: 1121-1125.
Giehl KA, Eckstein GN, Pasternack SM, Praetzel-Wunder S, Ruzicka T, Lichtner P et al. Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer. Am J Human Genet. 2012; 91: 754-759.
Giehl KA, Herzinger T, Wolff H, Sárdy M, von Braunmühl T, Dekeuleneer V et al. Eight novel mutations confirm the role of AAGAB in punctate palmoplantar keratoderma type 1 (Buschke-Fischer-Brauer) and show broad phenotypic variability. Acta Derm Venereol. 2016; 96: 468-472. doi: 10.2340/00015555-2304.
Goyal T, Varshney A. Adult onset familial palmoplantar keratoderma: an uncommon presentation. Indian Dermatol Online J. 2016; 7: 66. doi: 10.4103/2229-5178.174316.
Stanimirović A, Kansky A, Basta-Juzbasić A, Skerlev M, Beck T. Hereditary palmoplantar keratoderma, type papulosa in Croatia. J Am Acad Dermatol. 1993; 29: 435-437.
Sakiyama T, Kubo A. Hereditary palmoplantar keratoderma clinical and genetic differential diagnosis. J Dermatol. 2016; 43: 264-274.
Krøigård AB, Hetland LE, Clemmensen O, Blaydon DC, Hertz JM, Bygum A. The first Danish family reported with an AQP5 mutation presenting diffuse non-epidermolytic palmoplantar keratoderma of Bothnian type, hyperhidrosis and frequent Corynebacterium infections: a case report. BMC Dermatol. 2016; 16: 7. doi: 10.1186/s12895-016-0044-3.