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Table of Contents
Year : 2019  |  Volume : 37  |  Issue : 3  |  Page : 147-149

Huriez syndrome: A cancer-prone disease with palmoplantar keratoderma and sclerodactyly

1 Department of Dermatology, Kaohsiung Veterans General Hospital, Kaohsiung, Taiwan
2 Department of Dermatology, Kaohsiung Veterans General Hospital; Department of Dermatology, Faculty of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan

Date of Submission10-Aug-2018
Date of Acceptance29-Nov-2018
Date of Web Publication23-May-2019

Correspondence Address:
Chieh-Shan Wu
No. 386, Dazhong 1st Rd., Zuoying Dist., Kaohsiung City 81362
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ds.ds_37_18

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Huriez syndrome is a rare genodermatosis, which is characterized by palmoplantar keratoderma, sclerodactyly, nail abnormalities, and an increasing risk of squamous cell carcinoma. The exact causative gene and pathogenesis of Huriez syndrome have not been identified. We herein introduce a case of 62-year-old woman with Huriez syndrome who developed squamous cell carcinoma in her 60s. This case underscores the importance of early detection of this disease due to its aggressive carcinogenic nature with high metastatic potential. Regular and detailed clinical follow-ups are needed to prevent morbidity and provide appropriate treatment for skin cancers in affected patients.

Keywords: Genodermatosis, Huriez syndrome, palmoplantar keratoderma, sclerodactyly, squamous cell carcinoma

How to cite this article:
Wei YA, Wu CS. Huriez syndrome: A cancer-prone disease with palmoplantar keratoderma and sclerodactyly. Dermatol Sin 2019;37:147-9

How to cite this URL:
Wei YA, Wu CS. Huriez syndrome: A cancer-prone disease with palmoplantar keratoderma and sclerodactyly. Dermatol Sin [serial online] 2019 [cited 2023 Feb 4];37:147-9. Available from: https://www.dermsinica.org/text.asp?2019/37/3/147/258938

  Introduction Top

Huriez syndrome is a rare genodermatosis which is characterized by palmoplantar keratoderma, sclerodactyly, nail dystrophies, and an increased risk of squamous cell carcinoma (SCC).[1],[2] Here, we present a case of a 62-year-old woman with Huriez syndrome since her birth who developed SCC in her 60s.

  Case Report Top

A 62-year-old woman presented with underlying diseases of diabetes mellitus and hypertension visited our clinic due to an 11 cm × 8 cm in size, erythematous, protruding tumor with verrucous surface over her upper back, which was progressively enlarging in the past 5 months [Figure 1]a.
Figure 1: (a) Squamous cell carcinoma arising from the poikilodermic area over the upper back. Alopecia was also present in the patient. (b) Hyperkeratosis of the palms with sclerodactyly was shown. (c) Anonychia and sclerodactyly were also observed over the toes

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On physical examination, several atrophic, brownish, erythematous and violaceous, telangiectatic patches were noticed over her bilateral dorsal hands, forearms, elbows, anterior tibias, and dorsal feet. The poikilodermic patches were also found on the upper back, in periphery to the tumor. Diffuse yellowish, hyperkeratotic plaques over her palms and soles with fissuring and sclerodactyly were noted [Figure 1]b. The absence of teeth was presented with anonychia on her fingers and toes [Figure 1]c. Partial hair loss over the scalp and eyebrows was also observed.

According to her statement, symptoms of sclerodactyly, abnormal teeth, and palmoplantar keratoderma were present since her childhood, while hair loss was present within a short period after birth. No blistering, collodion baby at birth, photosensitivity, facial erythema, central facial dystrophy, eyelid cysts, or prominent sweating abnormalities were reported. Her granddaughter had the symptom of microtia. Neither of her parents, siblings, and children were affected.

Skin biopsy from the back tumor revealed well-differentiated SCC. Another biopsy was taken from her left palm, and the histopathology showed hyperkeratosis, well-developed granular layer, and mild acanthosis with elongated epidermal ridges, which were consistent with palmoplantar keratoderma [Figure 2]a and [Figure 2]b. Immunohistochemistry stains of CD1a and S100 showed near absence of Langerhans cells (LCs) in lesional skin [Figure 2]c, [Figure 2]d, [Figure 2]e, [Figure 2]f. Based on the patient's history, clinical findings, and histopathology, Huriez syndrome was diagnosed. Gallium scan for tumor survey showed reactive lymph nodes in the right pulmonary hilar region. Chest computed tomography upon further examination revealed cutaneous tumor with subcutaneous infiltrate in the upper back without any apparent nodular lung lesions or hilar lymph node enlargement. She had received wide excision with 1-cm margin, and frozen sections of 3, 6, 9, and 12 o'clock directions were sent separately, which pathology reports showed free of tumor in frozen sections. Rhomboid flap was done over her back.
Figure 2: (a and b) Histopathology showed hyperkeratosis and mild acanthosis. Note the dilated eccrine gland (hematoxylin and eosin, [a] ×40, [b] ×100). (c) Immunohistochemistry analysis showed a marked reduction in CD1a-positive Langerhans cells in the epidermis (×100), compared to (d) the control skin specimen (×100). (e) Immunohistochemistry stain showed near absence of epidermal S100-positive Langerhans cells (× 100) compared to (f) the control skin specimen (×100)

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  Discussion Top

Huriez syndrome, also referred to as “sclerotylosis,” was first reported by Huriez et al. in 1963 among two families in Northern France.[1],[3],[4],[5] It is considered a rare autosomal dominant genodermatosis, but there have been a few sporadic cases reported in literature.[4],[5] In addition to France, cases from Japan,[5] India,[6] Tunisia,[7] Germany,[8] and Italy[9] have also been reported, which may indicate no racial bias in the occurrence of this syndrome. Clinically, it is characterized by the triad of congenital scleroatrophy of the distal extremities, palmoplantar keratoderma, and changes in nails including ridging, clubbing, or hypoplasia of the nails.[9],[10] The keratoderma is more prominent on the palms than on the feet.[2] Other features including hypohidrosis, flexion contractures of the fingers, malignancies of the skin, and poikiloderma have also been reported.[9],[10] The onset of the disease is at birth or in the first year of life and persists throughout life.

The pathogenesis of Huriez syndrome remains unknown. To date, no specific gene responsible for Huriez syndrome has been identified.[4] Deminatti et al. noticed the linkage between Huriez syndrome and MNS blood type, which was later mapped to chromosome 4q28-31.[11] Lee et al. localized the gene to chromosome 4q23 by linkage analysis in members from one of the families first described by Huriez as well as another family that originated from the same region of Northern France.[12] Further investigations are necessary to detect the exact gene and mechanism for the syndrome.

Early diagnosis of the disease is important due to increasing risk of skin malignancies associated with Huriez syndrome. It has been reported that about 15% of the patients with Huriez syndrome developed SCC[12] and an approximately 5% mortality rate was reported.[8] SCC in Huriez syndrome has distinct feature, which is characterized by early onset in the third to fourth decades of life with a more aggressive and highly metastatic potential.[5],[8],[13]

The skin malignancies in the affected patients were thought to arise from the scleroatrophic skin. Previous studies have described sites of SCC in the hands, thenar eminences, and heels,[1],[5],[9],[14] which may be trauma-prone sites. The development of SCC in the syndrome shares similarity with Marjolin's ulcer, in which the malignancies arise due to chronic ulcers in the scar tissue.[13] The fragility of skin in the affected patients leads to scarring. Scleroatrophic skin changes may have a similar process of scarring, which in turn predispose the patient to skin malignancies.[13]

Immunohistochemistry studies of the involved skin in Huriez syndrome show a decrease or near absence of epidermal LCs.[8] LCs play important roles in tumor-associated antigen's presentation and cutaneous surveillance against neoplasms.[15] Some authors have suggested that the diminishing epidermal LCs may contribute to malignant degeneration in the scleroatrophic skin.[9] However, there were no abnormal expressions of factors related to LC development or recruitment, such as granulocyte-macrophage colony-stimulating factor, transforming growth factor-β1, and macrophage inflammatory protein-3α.[9] The inability of LCs to properly spread in the epidermis warrants further study. Other authors have reported that some genes may underly the Huriez syndrome and its susceptibility to skin cancers. Watanabe et al. reported positive p53 staining of an atypical keratinocyte in a Japanese woman with Huriez syndrome, which may suggest that p53 gene mutation may play a role in SCC or actinic keratosis development in the syndrome.[5] Recently, Günther et al. reported SMARCAD1 haploinsufficiency in Huriez syndrome and hypothesized on its relationship with cutaneous SCC development, possibly due to the impairment in repair of deoxyribonucleic acid double-strand breaks.[16]

Early diagnosis of the disease is mandatory due to the associated high risk of tumorigenesis. Multidisciplinary approach with geneticists, dermatologists, and plastic surgeons is important, and close follow-ups are required to identify any cancer. Symptomatic treatments of Huriez syndrome include topical emollient agents, keratolytic agents, and topical or oral retinoids.[4] For patients who develop SCC, surgical management with wide resection and skin grafting is recommended.[14]

In this case, we hope to highlight that Huriez syndrome is a rare genodermatosis, for which the exact causative gene has not been identified. It is critical to detect the disease early due to its cancer-prone nature. Regular and detailed clinical follow-ups to prevent morbidity or to provide an appropriate treatment for SCC are necessary.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

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Conflicts of interest

There are no conflicts of interest.

  References Top

Huriez C, Agache P, Bombart M, Souilliart F. Spinocellular epitheliomas in congenital cutaneous atrophy in 2 families with high cancer morbidity. Bull Soc Fr Dermatol Syphiligr 1963;70:24-8.  Back to cited text no. 1
Patrizi A, Di Lernia V, Patrone P. Palmoplantar keratoderma with sclerodactyly (Huriez syndrome). J Am Acad Dermatol 1992;26:855-7.  Back to cited text no. 2
Huriez C, Deminati M, Agache P, Delmas-Marsalet Y, Mennecier M. Sclero-atrophying and keratodermic genodermatosis of the extremities. Ann Dermatol Syphiligr (Paris) 1969;96:135-46.  Back to cited text no. 3
Çelik NS, Yaşar Ş, Aytekin S, Güneş P. A rare syndrome resembling scleroderma: Huriez syndrome. Skin Appendage Disord 2018;4:82-5.  Back to cited text no. 4
Watanabe E, Takai T, Ichihashi M, Ueda M. A nonfamilial Japanese case of Huriez syndrome: P53 expression in squamous cell carcinoma. Dermatology 2003;207:82-4.  Back to cited text no. 5
Yesudian P, Premalatha S, Thambiah AS. Genetic tylosis with malignancy: A study of a South Indian pedigree. Br J Dermatol 1980;102:597-600.  Back to cited text no. 6
Lambert D, Planche H, Chapuis JL. Sclero-atrophic and keratodermic genodermatosis of the extremities. Ann Dermatol Venereol 1977;104:654-7.  Back to cited text no. 7
Hamm H, Traupe H, Bröcker EB, Schubert H, Kolde G. The scleroatrophic syndrome of Huriez: A cancer-prone genodermatosis. Br J Dermatol 1996;134:512-8.  Back to cited text no. 8
Guerriero C, Albanesi C, Girolomoni G, De Simone C, Capizzi R, Amerio P, et al. Huriez syndrome: Case report with a detailed analysis of skin dendritic cells. Br J Dermatol 2000;143:1091-6.  Back to cited text no. 9
Kharge P, Fernendes C, Jairath V, Mohan M, Chandra S. Poikiloderma a varied presentation – Huriez syndrome. Indian Dermatol Online J 2015;6:27-30.  Back to cited text no. 10
[PUBMED]  [Full text]  
Deminatti M, Delmas-Marsalet Y, Mennecier M, Marquet S, Agache P, Huriez C, et al. Study of a probable linkage between a genodermatosis with an autosomal dominant transmission and the MNSs blood group system. Ann Genet 1968;11:217-24.  Back to cited text no. 11
Lee YA, Stevens HP, Delaporte E, Wahn U, Reis A. A gene for an autosomal dominant scleroatrophic syndrome predisposing to skin cancer (Huriez syndrome) maps to chromosome 4q23. Am J Hum Genet 2000;66:326-30.  Back to cited text no. 12
Sekar SC, Srinivas CR. Huriez syndrome. Indian J Dermatol Venereol Leprol 2008;74:409-10.  Back to cited text no. 13
[PUBMED]  [Full text]  
Riggio E, Spano A, Bonomi S, Nava M. Huriez syndrome: Association with squamous cell carcinoma and a surgical approach. Plast Reconstr Surg 2005;116:689-91.  Back to cited text no. 14
Grabbe S, Bruvers S, Granstein RD. Effects of immunomodulatory cytokines on the presentation of tumor-associated antigens by epidermal Langerhans cells. J Invest Dermatol 1992;99:66S-8S.  Back to cited text no. 15
Günther C, Lee-Kirsch MA, Eckhard J, Matanovic A, Kerscher T, Rüschendorf F, et al. SMARCAD1 haploinsufficiency underlies Huriez syndrome and associated skin cancer Susceptibility. J Invest Dermatol 2018;138:1428-31.  Back to cited text no. 16


  [Figure 1], [Figure 2]

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