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Punctate Palmoplantar Keratoderma: A Case Report of Type 1 (Buschke-Fischer-Brauer Disease)

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Rahaf S Bukhari at Assistance Publique Hôpitaux de Marseille
Rahaf S Bukhari
Waseem Alhawsawi at King Saud bin Abdulaziz University for Health Sciences
Waseem Alhawsawi
Aisha Ahmad Radin at Umm Al-Qura University
Aisha Ahmad Radin
Hawazin D. Jan
Hawazin D. Jan
Hawazin D. Jan
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Abstract and Figures

Punctate palmoplantar keratoderma is a rare hereditary palmoplantar keratoderma. Herein we report a 59-year-old male, otherwise healthy, who presented with a 25-year history of asymptomatic persistent slowly progressing skin lesions on both hands. The parents are non-consanguineous and none of his family members had similar lesions. Skin examination revealed multiple tiny keratotic pits on both palms. Punch skin biopsy from the palmar lesion revealed epidermal depression with an overlying column of compact orthokeratosis. Based on the above clinicopathological findings, a diagnosis of punctate palmoplantar keratoderma type 1 was made. The patient was started on 40% urea and 20% salicylic acid ointment for months but with little improvement.
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Case Rep Dermatol 2019;11:292–296
DOI: 10.1159/000503337
Published online: October 10, 2019
© 2019 The Author(s)
Published by S. Karger AG, Basel
www.karger.com/cde
This article is licensed under the Creative Commons Attribution-NonCommercial 4.0
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Usage and distribution for commercial purposes requires written permission.
Khalid Al Hawsawi
House # 4148, AL-Takassosidistrict
Branch # 6134, Unit # 1
Makkah 24323 (Saudi Arabia)
E-Mail hawsawik2002@hotmail.com
Single Case
Punctate Palmoplantar Keratoderma:
A Case Report of Type 1
(Buschke-Fischer-Brauer Disease)
Rahaf Bukharia Waseem Alhawsawib Aisha Ahmad Radinc
Hawazin D. Jana Khalid Al Hawsawia Marwan Al Ahmadid
aKing Abdul Aziz Hospital, Dermatology Department, Makkah, Saudi Arabia;
bKing Saud bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia;
cUmm Alqura University, Makkah, Saudi Arabia; dFaculty of Health, Medicine and
Life Sciences, Maastricht university, Maastricht, The Netherlands
Keywords
Palmoplantar keratoderma · Punctate palmoplantar keratoderma · Buschke-Fischer-Brauer
disease · Porokeratosis punctata palmaris et plantaris
Abstract
Punctate palmoplantar keratoderma is a rare hereditary palmoplantar keratoderma. Herein we
report a 59-year-old male, otherwise healthy, who presented with a 25-year history of asymp-
tomatic persistent slowly progressing skin lesions on both hands. The parents are non-con-
sanguineous and none of his family members had similar lesions. Skin examination revealed
multiple tiny keratotic pits on both palms. Punch skin biopsy from the palmar lesion revealed
epidermal depression with an overlying column of compact orthokeratosis. Based on the
above clinicopathological findings, a diagnosis of punctate palmoplantar keratoderma type 1
was made. The patient was started on 40% urea and 20% salicylic acid ointment for months
but with little improvement. © 2019 The Author(s)
Published by S. Karger AG, Basel
Case Rep Dermatol 2019;11:292–296
DOI: 10.1159/000503337
© 2019 The Author(s). Published by S. Karger AG, Basel
www.karger.com/cde
Bukhari et al.: Punctate Palmoplantar Keratoderma: A Case Report of Type 1 (Buschke-
Fischer-Brauer Disease)
293
Introduction
Palmoplantar keratoderma (PPK) comprises a heterogeneous group of disorders charac-
terized by hyperkeratosis of the palms and soles [1]. It can be hereditary or acquired. Heredi-
tary PPK can be further classified into three major categories: diffuse, focal, and punctate PPK
(PPPK) [2]. These diseases can be distinguished from each other on the basis of inheritance
pattern, onset, distribution, morphology, severity, histopathological findings, additional der-
matological findings, and systemic manifestations [3]. The prevalence of PPPK was estimated
to be 1.17/100,000 [4]. The exact etiology is little understood. It is believed that both genetic
and environmental factors play some roles. PPPK displays an autosomal dominant pattern of
inheritance and has been linked with two loci on chromosomes 15q22 15q24 and 8q24.13–
8q24.21 [5]. Mutations in AAGAB and COL14A1 have been recognized to date [3]. This auto-
somal dominant condition tends to occur much later than other hereditary keratodermas. It
usually appears between the age of 20 and 30 years [6]. Male patients tend to be more com-
monly affected [7]. Clinically, PPPK presents as multiple tiny hyperkeratotic papules on the
palmoplantar surfaces, often described as “raindrop” keratosis. On palms, the lesions are usu-
ally scattered, whereas on soles, they are coalesced [8]. The lesions may evolve over time, be-
coming translucent, opaque, or verrucous. Some papules may form a keratotic core and de-
tachment of the core may lead to a characteristic central depression [2]. Patients generally
remain asymptomatic but rarely, pain can be caused by pressure [9]. Herein we report a rare
case of type 1 PPPK on both palms.
Case Report
A 59-year-old male, otherwise healthy, presented with a 25-year history of asymptomatic
persistent slowly progressing skin lesions on the hands. Past medical history and review of
systems were unremarkable. The parents are non-consanguineous and none of his family had
similar lesions. Skin examination revealed multiple tiny brownish keratotic pits on both palms
(Fig. 1). There were no similar lesions elsewhere on his body. Hair, nails, and mucous mem-
branes were normal. Complete blood count with differentials, peripheral blood smear, liver
enzymes, urea, creatinine, electrolytes, abdomen and pelvis ultrasound, chest X-ray, and com-
puted tomography of the chest, abdomen, and pelvis were normal. Punch skin biopsy from the
lesion revealed epidermal depression with an overlying column of compact orthokeratosis
(Fig. 2). Based on the above clinicopathological findings, a diagnosis of PPPK type 1 was made.
The patient was reassured and started on 40% urea ointment and 20% salicylic acid ointment
with little improvement.
Discussion
There are 3 types of PPPK. Table 1 shows the differences between these three types. [1,
3]. The histopathological features of our case were consistent with type 1 (epidermal depres-
sion with an overlying column of compact orthokeratosis). Important differential diagnosis
includes Darier’s disease, pitted keratolysis, punctate porokeratoses, basal cell nevus syn-
drome, basaloid follicular hamartoma syndrome, reticulate acropigmentation of Kitamura,
Case Rep Dermatol 2019;11:292–296
DOI: 10.1159/000503337
© 2019 The Author(s). Published by S. Karger AG, Basel
www.karger.com/cde
Bukhari et al.: Punctate Palmoplantar Keratoderma: A Case Report of Type 1 (Buschke-
Fischer-Brauer Disease)
294
Cowden syndrome, and porokeratotic adnexal ostial nevus. However, the histopathology of
our case was typical for type 1 PPPK. Associated systemic involvement is rare. Studies have
suggested possible associations between PPPK and lymphoma as well as malignancies of the
pancreas, colon, breast, and kidney [2]. However, our patient has none of these malignancies.
No standardized treatment for PPPK has yet been established [9].
Management of PPPK includes topical keratolytics, liquid nitrogen, PUVA (psoralen plus
ultraviolet A), systemic or topical retinoids, systemic acitretin, etretinate or alitretinoin, and
topical steroid [6]. Few numbers of reported cases demonstrated successful treatment with
keratolytics and systemic acitretin. However, relapses are common [9]. Our patient was
treated with topical 40% urea ointment and 20% salicylic acid ointment. At follow-up 6
months later, the lesions showed little improvement. However, the patient was lost to follow-
up.
Acknowledgement
The authors thank the typist of the manuscript, Mr. Mahmood.
Statement of Ethics
The authors have no ethical conflicts to disclose. Written consent has been obtained from
the patient. The research was conducted ethically in accordance with the World Medical As-
sociation Declaration of Helsinki. The study protocol was approved by the institute’s commit-
tee on human research. Information revealing the subject’s identity is to be avoided. All pa-
tients should be identified by numbers or aliases and not by their real names.
Disclosure Statement
The authors have no conflicts of interest to declare.
Funding Sources
No sources of funding were used to assist in the preparation of the manuscript.
Author Contributions
Conception and design of study: Khalid Al Hawsawi. Data collection: Marwan Al Ahmadi,
Aisha Ahmad Radin. Introduction and discussion: Rahaf Bukhari, Waseem Alhawsawi, and Ha-
wazin Jan. Drafting the manuscript: Rahaf Bukhari, Marwan Al Ahmadi. Revising the manu-
script critically for important intellectual content: Khalid Al Hawsawi and Hawazin Jan. Ap-
proval of the version of the manuscript to be published: Khalid Al Hawsawi, Rahaf Bukhari,
Marwan Al Ahmadi, and Hawazin Jan.
Case Rep Dermatol 2019;11:292–296
DOI: 10.1159/000503337
© 2019 The Author(s). Published by S. Karger AG, Basel
www.karger.com/cde
Bukhari et al.: Punctate Palmoplantar Keratoderma: A Case Report of Type 1 (Buschke-
Fischer-Brauer Disease)
295
References
1 Metze D, Oji V. Palmoplantar keratodermas. In: In Bolognia JL, Schaffer JV, Cerroni L, editors. Dermatology.
4th ed. Philadelphia (PA): Elsevier Health Sciences; 2018. pp. 924–43.
2 Oztas P, Alli N, Polat M, Dagdelen S, Ustün H, Artüz F, et al. Punctate palmoplantar keratoderma (Brauer-
Buschke-Fischer syndrome). Am J Clin Dermatol. 2007;8(2):113–6.
3 Guerra L, Castori M, Didona B, Castiglia D, Zambruno G. Hereditary palmoplantar keratodermas. Part I. Non-
syndromic palmoplantar keratodermas: classification, clinical and genetic features. J Eur Acad Dermatol
Venereol. 2018 May;32(5):704–19.
4 Stanimirović A, Kansky A, Basta-Juzbasić A, Skerlev M, Beck T. Hereditary palmoplantar keratoderma, type
papulosa, in Croatia. J Am Acad Dermatol. 1993 Sep;29(3):435–7.
5 Gao M, Yang S, Li M, Yan KL, Jiang YX, Cui Y, et al. Refined localization of a punctate palmoplantar
keratoderma gene to a 5.06-cM region at 15q22.2-15q22.31. Br J Dermatol. 2005 May;152(5):874–8.
6 Pai VV, Kikkeri NN, Athanikar SB, Sori T, Rao R. Type I punctate palmoplantar keratoderma (Buschke-Fisher-
Brauer disease) in a family—a report of two cases. Foot. 2012 Sep;22(3):240–2.
7 Horikoshi M, Kuroda K, Tajima S. Punctate palmoplantar keratoderma with pigmentary lesions on the dorsa
of feet and ankles: successful treatment with a combination of low-dose oral etretinate and topical
calcipotriol. J Dermatol. 2004 Jun;31(6):469–72.
8 Stevens HP, Kelsell DP, Bryant SP, Bishop DT, Spurr NK, Weissenbach J, et al. Linkage of an American
pedigree with palmoplantar keratoderma and malignancy (palmoplantar ectodermal dysplasia type III) to
17q24. Literature survey and proposed updated classification of the keratodermas. Arch Dermatol. 1996
Jun;132(6):640–51.
9 Jo JW, Jeong DS, Kim CY. Case of punctate palmoplantar keratoderma type I treated with combination of low-
dose oral acitretin and topical salicylic acid and steroid. J Dermatol. 2018 May;45(5):609–12.
Fig. 1. Palms of the patient showing multiple tiny brownish keratotic pits.
Case Rep Dermatol 2019;11:292–296
DOI: 10.1159/000503337
© 2019 The Author(s). Published by S. Karger AG, Basel
www.karger.com/cde
Bukhari et al.: Punctate Palmoplantar Keratoderma: A Case Report of Type 1 (Buschke-
Fischer-Brauer Disease)
296
Fig. 2. Histopathology of the lesion showing cup-shaped epidermal depression with overlying column of
compact orthohyperkeratosis.
Table 1. Differences between the 3 different types of punctate palmoplantar keratoderma
Name
Punctate PPK type 1 (Buschke-
Fischer-Brauer disease)
Punctate PPK type 2 (spiny
keratoderma)
Punctate PPK type 3 (acro-
keratoelastoidosis)
Inheritance
Autosomal dominant
Autosomal dominant
Autosomal dominant
Onset
Late childhood to adulthood
Puberty to early adulthood
Adolescence to adulthood
Morphology of the
PPK
Multiple hyperkeratotic papules
with central indentation;
worsening of papules upon
exposure to water
Early onset: multiple spiny
keratosis
Late onset: pits with keratotic
plugs
Translucent hyperkeratotic
papules, sometimes umbili-
cated, on lateral aspects of
palms and sole
Other skin/cutaneous
involvement
Nail dystrophy (uncommon)
No
Nail dystrophy (extremely
rare)
Associated systemic
involvement
Association with malignancies
(rare)
Facial sebaceous hypoplasia
in males
No
Histologic features
Epidermal depression with an
overlying column of compact
orthokeratosis
Epidermal depression with an
overlying column of para
keratosis, in contrast to poro-
keratosis, the granular layer is
preserved
Hyperkeratosis and hyper-
granulosis; decreased num-
ber of fragmented elastic
fibers (elastorrhexis)
PPK, palmoplantar keratoderma.
... Palmoplantar keratodermas are a heterogeneous group of hereditary or acquired diseases, characterized by an excessive epidermal thickening of palmoplantar surfaces. [1][2][3][4][5] One of its rare hereditary forms is punctate palmoplantar keratoderma (Brauer-Buschke-Fischer syndrome), that follows a pattern of autosomal dominant inheritance with variable penetrance, and usually GAZETA MÉDICA Nº3 VOL. 8 · JULHO/SETEMBRO 2021 · 225 appears in late childhood to adulhood. 3 In our case the age of presentation was much earlier, which is uncommon. ...
... This genodermatosis, although benign, tends to suffer clinical worsening over time, 3 and may be associated with the development of neoplasms (pancreas, colon, breast, kidney and lymphoma). 2,4 There is no efficient treatment, although some improvement may be achieved with the use of emollients and topical keratolytics. Other treatments such as psoralen plus ultraviolet A (PUVA), systemic or topical retinoids or liquid nitrogen have also been used, with limited success. ...
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  • Oct 1993
  • J AM ACAD DERMATOL
Hereditary palmoplantar keratoderma (HPPK), type papulosa, is rare, and epidemiologic data are sporadic and inconsistent. An epidemiologic population study of this disease has not been performed previously. We performed a large population study on prevalence of HPPK, type papulosa, in Croatia. The data were collected from medical records of dermatology departments throughout Croatia; 14 patients and their relatives were examined. Histopathologic studies were performed in 11 of these 14 patients. Fifty-five patients were identified and the prevalence was 1.17 per 100,000 inhabitants. All 55 patients belonged to 20 different families. An autosomal dominant mode of inheritance was confirmed in 13 families. All 14 patients examined by the authors had both palmar and plantar lesions; the volar aspects of fingers were also involved. Thickened nails were observed in four patients, and no significant skin lesions were found elsewhere. HPPK, type papulosa, is rare, and its prevalence in Croatia is about four times lower than HPPK, Unna-Thost type. It should be considered a distinct entity.
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Linkage of an American pedigree with palmoplantar keratoderma and malignancy (palmoplantar ectodermal dysplasia type III) to 17q24. Literature survey and proposed updated classification of the keratodermas
Article
  • Jun 1996
  • ARCH DERMATOL
To determine linkage in a pedigree with palmoplantar keratoderma (PPK) associated with squamous cell carcinoma of the esophagus. A large American pedigree was studied and the clinical phenotype was described. Linkage analysis was performed using genomic DNA from key individuals. A community-based family study. The family pedigree was expanded from a single index case. To demonstrate linkage and the relative risk of squamous cell carcinoma of the esophagus in this pedigree. Focal PPK was inherited as an autosomal dominant with variable expression, but signs were not limited to the palmoplantar epidermis. The generalized nature of this pattern of PPK was highlighted by the perifollicular papules and oral hyperkeratosis. Affected individuals (125 individuals) in 7 generations were identified, with 17 affected individuals having associated cancer. Seven of the 8 squamous cell carcinomas of the esophagus occurred in smokers. Other tumors were seen in nonsmokers, but these were not significantly increased. The combined male-female expected incidence of squamous cell carcinoma of the mouth and esophagus was 0.21; observed, 8 (relative risk of 38; P < .001). Linkage to the tylosis and esophageal cancer gene locus on 17q24 was demonstrated with a maximum 2-point lod score of 8.20 at zero recombination fraction for the DNA marker D17S1603. The distinctive clinical phenotype in this family suggests a new classification for PPKs, in particular a reappraisal of the phenotype as a focal PPK. A very similar phenotype is found in patients with keratin K16 gene mutations.
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Punctate Palmoplantar Keratoderma with Pigmentary Lesions on the Dorsa of Feet and Ankles: Successful Treatment with a Combination of Low-Dose Oral Etretinate and Topical Calcipotriol
Article
  • Jul 2004
We describe a patient with typical keratotic lesions of punctate palmoplantar keratoderma on the hands and feet and unique pigmentary lesions on the dorsa of the feet and ankles. A combination of low-dose oral etretinate (10 mg/day) and calcipotriol ointment 0.005% resulted in a complete regression, whereas pigmentary lesions on the dorsa of the feet and ankles did not change during the treatment.
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Refined localization of a punctate palmoplantar keratoderma gene to a 5.06-cM region at 15q22.2-15q22.31
Article
  • Jun 2005
Punctate palmoplantar keratoderma (PPK) is a rare autosomal dominant cutaneous disorder characterized by numerous hyperkeratotic papules distributed on the palms and soles. Two loci for punctate PPK were recently found to be located on 8q24.13-8q24.21 and 15q22-15q24. However, no genes for this disease have been identified to date. Objectives To refine the previously mapped regions and to identify the disease gene locus in a four-generation Chinese family with punctate PPK. Genetic linkage analysis was carried out in this family using microsatellite markers on chromosomes 8q and 15q. Two-point linkage analysis was performed using Linkage programs version 5.10 and the haplotype was constructed using Cyrillic version 2.02 software. We failed to confirm our previous locus at 8q24.13-8q24.21, but significant evidence for linkage was observed in the region of 15q with a maximum two-point LOD score of 5.38 at D15S153 (theta = 0.00). Haplotype analysis localized the punctate PPK locus within the region defined by D15S651 and D15S988. This region overlaps by 5.06 cM with the previously reported punctate PPK region. This study refines a disease gene causing punctate PPK to a 5.06-cM interval at 15q22.2-15q22.31.
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Palms of the patient showing multiple tiny brownish keratotic pits
  • Jan 2019
  • 292-296
Fig. 1. Palms of the patient showing multiple tiny brownish keratotic pits. Case Rep Dermatol 2019;11:292-296 DOI: 10.1159/000503337