Punctate palmoplantar keratoderma Q82.8

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 21.04.2021

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Synonym(s)

Keratoma palmare et planttare hereditarium dissipatum; Keratosis palmoplantaris maculosa; Keratosis palmoplantaris papulosa seu maculosa; Keratosis palmoplantaris papulosa seu maculosa Buschke-Fischer-Brauer; OMIM 148600; PPK; PPK1; punctate palmoplantar keratoderma; Punctured palmoplantar keratosis type 1; Spotted palmoplantar keratosis type Buschke-Fischer-Brauer

History
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Buschke and Fischer 1910; Brewer 1913

Definition
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Autosomal dominant inherited palmoplantar keratosis with onset of the disease in adulthood and development of extensive cornu-cutaneum-like horn beds.

Etiopathogenesis
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Regular autosomal dominant inheritance. Detectable mutations are in the AAGAB gene, which maps to chromosome 15 (15q22.2-15q22.31) (Pohler E et al. 2012, Giehl KA et al. 2012). The gene encodes an alpha- and gamma-adaptin-binding protein. In 2 Chinese families, another mutation was found on chromosome 8q24 in the COL14A1 gene, which encodes collagen XIV (Bi-Rong G et al. 2012).

Manifestation
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Varying inter- and intrafamilial penetrance. Mostly occurring from puberty onwards, but also partially described in childhood.

Localization
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palmoplantar, progressive. No transgrediens (hyperkeratoses do not extend beyond palmae and plantae).

Clinical features
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Symmetrical occurrence of multiple and shorter periods of population, usually lentil-sized, warty horn papules, which are dented in the middle. Over the years, cherry-sized, isolated or even aggregated prominent horn nodes may develop, which may confluent into bulky wart-like beds. This can result in a cornu-cutaneum-like aspect. There is usually pressure laxity when walking. Occasionally nail dystrophies are present. Spontaneous remissions are not usually observed. The phenotype can vary considerably between families.

Histology
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Enormous ortohyperkeratosis with pronounced hypergranulosis as well as massive elongation of the rectal ridges. Vent-like ascending of the acrosyringea through the overlying horny masses. No inflammatory infiltrate.

Differential diagnosis
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Therapy
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Usually not necessary. Disturbing hyperkeratoses may be removed mechanically, if necessary surgical intervention. Topically, emollients and keratinolytics prove to be helpful. Systemic therapy with retinoids(acitretin, alitretinoin) is possible and leads to improvements. However, therapeutic success can only be achieved with permanent treatment.

Progression/forecast
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No spontaneous remission.

A possible association with cancer is described. It is assumed that an increased EGFR-signaling, which can be detected in AAGAB-deficiency, could be causal. In particular, lymphomas, malignancies of the kidney, breast and gastrointestinal tract have been described.

Literature
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  1. Bodemer C et al. (2021) Treatment of hereditary palmoplantar keratoderma: a review by analysis of the literature. Br J Dermatol. 184:393-400.
  2. Guo BR et al. (2012) Exome sequencing identifies a COL14A1 mutation in a large Chinese pedigree with punctate palmoplantar keratoderma. J Med Genet 49:563-568.
  3. Has C et al. (2016) Palmoplantar keratodermas: clinical and genetic aspects. J Dtsch Dermatol Ges 14:123-39; quiz 140.
  4. Klein B et al (2021) Palmoplantar papules. N Engl J Med 384:1447.
  5. Müller CSI et al (2010) Keratosis palmoplantaris papulosa seu maculosa Buschke-Fischer-Brauer. Akt Dermatol 36: 480-483
  6. Seebode C, Schiller S et al (2014) Skin lesions of the hands and feet. Dermatol 65: 499-512
  7. Zhang XJ et al.(2004) Identification of a locus for punctate palmoplantar keratodermas at chromosome 8q24.13-8q24.21. J Invest Dermatol 122:1121-1125.

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Last updated on: 21.04.2021