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Year : 2016  |  Volume : 17  |  Issue : 3  |  Page : 246-248

Brunauer–Fuhs–Siemens palmoplantar keratoderma: A rare, striate type of focal palmoplantar keratoderma


Department of Dermatology, Venereology and Leprosy, Rajendra Institute of Medical Sciences, Ranchi, Jharkhand, India

Date of Web Publication5-Jul-2016

Correspondence Address:
Anup Kumar Tiwary
Flat No. 103, Maa Enclave Block B, Cheshire Home Road, Bariatu, Ranchi - 834 009, Jharkhand
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2319-7250.179500

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How to cite this article:
Tiwary AK, Chatterjee S, Mishra DK. Brunauer–Fuhs–Siemens palmoplantar keratoderma: A rare, striate type of focal palmoplantar keratoderma. Indian J Paediatr Dermatol 2016;17:246-8

How to cite this URL:
Tiwary AK, Chatterjee S, Mishra DK. Brunauer–Fuhs–Siemens palmoplantar keratoderma: A rare, striate type of focal palmoplantar keratoderma. Indian J Paediatr Dermatol [serial online] 2016 [cited 2019 Dec 13];17:246-8. Available from: http://www.ijpd.in/text.asp?2016/17/3/246/179500

Sir,

Brunauer–Fuhs–Siemens palmoplantar keratoderma (PPK), commonly known as striate PPK, is a rare, autosomally inherited disease of linear hyperkeratosis in which patient usually presents with conspicuous longitudinal hyperkeratosis on volar surface of both hands and feet. Mutations in 3 genes namely desmoglein (Dsg) 1, desmoplakin (Dp), and keratin 1 have been identified and held responsible for this type of keratoderma. We herein report a unique case of striate PPK in an 18-year-old male having linear hyperkeratosis over dorsal surface of both hands and feet along with nummular keratoderma since childhood.

An 18-year-old male came to the outpatient Department of Dermatology presenting with painless, linear thickening over the dorsal surface of both feet and hands since childhood. There was no family history of similar lesions. On local cutaneous examination, linear pattern of hyperkeratosis was noted along the dorsomedial border of both great toes [Figure 1]. Nummular or areate pattern of skin thickening was found on the dorsal surface of distal phalanx of index and middle finger of both hands and linear pattern on volar surface of right index finger. Interdigital space between thumb and index finger along with medial border of thumb of both hands also had linear hyperkeratosis.
Figure 1: Linear or striate hyperkeratosis over dorsomedial border of both great toes

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General physical and systemic examinations were not remarkable. All routine investigations and laboratory parameters were within normal limits.

Histopathological examination revealed marked orthohyperkeratosis, hypergranulosis, acanthosis, and thickened bundles of collagen in vertical array in papillary dermis [Figure 2].
Figure 2: Marked compact orthohyperkeratosis, hypergranulosis, acanthosis, thickened collagen bundles in papillary dermis

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On the basis of clinical pattern and histopathology, diagnosis of striate PPK was made and patient was started on topical keratolytics and emollients only.

PPKs are a diverse group of hereditary and acquired disorders characterized by excessive epidermal thickening of palms and soles.[1] On the basis of pattern of presentation, PPKs are often classified as diffuse, focal (areate), striate (linear), and punctate or papular. The demographic profiles of the patient such as age, gender, and occupation and site of the lesion are those factors which usually influence the pattern of PPKs. Further, focal PPKs are subclassified into nummular (Wachter keratoderma), striate or linear keratoderma, and pachyonychia congenita types.[2],[3] Striate type PPK was named “Brunauer–Fuhs–Siemens type striate PPK” after two dermatologists and one physician. They were Stefan Robert Brunauer (an Austrian physician), Herbert Fuhs (an Austrian dermatologist), and Hermann Werner Siemens (a German dermatologist).

Striate PPK is usually inherited as an autosomal dominant trait and is caused by defects in either of three different loci of genes: Desmosomal cadherin cluster on 18q12.1 encoding Dsg and desmocollins, 6p21 encoding Dp, and keratin 1 gene in very few cases.[4] The most common mutations are nonsense mutation or missense mutation arising due to haploinsufficiency. The majority of mutations in striate keratoderma are seen in Dsg1 or Dp1; however, in two cases, frameshift mutations in the V2 tail domain of keratin 1 gene were found which are important in crosslinking to cornified envelope proteins.[5] Apart from the keratoderma and nail changes, skin fragility and characteristic hair changes such as woolly hair and dilated cardiomyopathy forms a triad which are found in Naxos disease and Carvajal syndrome.[1]

On histopathology, all types of keratoderma have more or less similar features having variation in the severity of involvement of different epidermal layers with or without dermal collagen changes. Hyperkeratosis, hypergranulosis, acanthosis, widened intercellular spaces and thickened collagen bundles are common findings of histopathological evaluation of keratoderma. On electron microscopy of involved skin in patients with keratoderma associated with Dp mutations, abnormal perinuclear aggregation of keratin filaments and reduction in the peripheral keratin network, with loss of connections with desmosomes, are seen. Clinically, linear pattern of skin thickening on the palms and flexor aspects of the fingers and soles develop during infancy or in the first few years of life. The lesions of striate type are typically longitudinal, particularly on the palm and soles overlying flexor tendons while nummular type presents as focal painful callosities on pressure areas of palm and soles. Rarely, other sites such as elbow and knee may be involved but dorsum or dorsomedial aspects of feet has been reported in only one case in previous literature. Hence, our case is the second case with such presentation of striate type of PPK.

As in all other types of keratoderma, keratolytics and topical and oral retinoids are the only modalities with variable results.

Financial Support and Sponsorship

Nil.

Conflicts of Interest

There are no conflicts of interest.

 
  References Top

1.
Ketsell DP, Leigh IM. The inherited keratoderma of the palm and soles. In: Wolff K, Goldsmith LA, Katz SI, Gilchrist BA, Paller AS, Leffell DJ, editors. Fitzpatrick's Dermatology in General Medicine. 7th ed. New York: McGraw-Hill; 2008. p. 424-31.  Back to cited text no. 1
    
2.
Lucker GP, Van de Kerkhof PC, Steijlen PM. The hereditary palmoplantar keratoses: An updated review and classification. Br J Dermatol 1994;131:1-14.  Back to cited text no. 2
    
3.
Wachters DH. Over de Verschillende Morphologische Vormen van de Keratosis Palmoplantaris. Thesis, Leyden; 1963.  Back to cited text no. 3
    
4.
Whittock NV, Ashton GH, Dopping-Hepenstal PJ, Gratian MJ, Keane FM, Eady RA, et al. Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency. J Invest Dermatol 1999;113:940-6.  Back to cited text no. 4
    
5.
Barber AG, Wajid M, Columbo M, Lubetkin J, Christiano AM. Striate palmoplantar keratoderma resulting from a frameshift mutation in the desmoglein 1 gene. J Dermatol Sci 2007;45:161-6.  Back to cited text no. 5
    


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  [Figure 1], [Figure 2]



 

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