Clouston’s syndrome: a rare case report
DOI:
https://doi.org/10.18203/issn.2455-4529.IntJResDermatol20203759Keywords:
Clouston’s syndrome, Alopecia, Palmoplantar hyperkeratosis, Nail dystrophyAbstract
Ectodermal dysplasias are a heterogeneous group of disorders with primary defect in hair, teeth, nail and sweat glands with an estimated frequency of about seven per 10,000 births. Numerous types have been described and several classifications exist. Clouston’s syndrome (hidrotic ectodermal dysplasia) is a rare genodermatoses, characterized by a triad of nail dystrophy, alopecia and palmoplantar hyperkeratosis. Clouston’s syndrome is transmitted as an autosomal dominant trait and caused by mutations in the GJB6 gene (13q12), encoding the gap junction protein connexin 30 (CX30). At present, there is no treatment for the disease and management is purely supportive. The improved prognosis over time is likely due to greater recognition of the condition. In this report, a 23-year-old male patient with nail abnormalities and thickening of palmoplantar skin is reported. Anodontia of permanent dentition was present along with androgenic alopecia.
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References
Thuram J. Two cases in which the skin, hair and teeth were very imperfectly developed. Proc RM Chir Soc.1848;31:71-82.
Weech AA. Hereditary ectodermal dysplasia. Congenital ectodermal defect. Am J Dis Child. 1929;37:766-90.
Shah KN, Mckinster CD. Ectodermal dysplasia. Available at: http://emedicine.medscape.com/
article/1110595-overview#showall. Accessed on 17 May 2020.
Clarke A. Hypohidrotic ectodermal dysplasia. J Med Genet. 1987;24:659-63.
Bani M, Tezkirecioglu AM, Akal N, Tuzuner T. EctodermaDyslasia with Anodontia: A Report of Two Cases. Eur J Dent. 2010;4:215-222.
Deshpande SN, Kumar V. Ectodermal dysplasia- Maxillary and mandibular alveolar reconstruction with dental rehabilitation: A case report and review of the literature. Ind J Plast Surg. 2010:43;92-6.
Clouston HR. The major forms of hereditary ectodermal dysplasia: (With an autopsy and biopsies on the anhidrotic type). Can Med Assoc J. 1939;40:1-7.
Der Kaloustian VM. Hidrotic Ectodermal Dysplasia. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. Gene Reviews®. Seattle: University of Washington, Seattle; 1993-2019. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1200. Accessed on 17 May 2020.
Andrade AC, Vieria DC, Harris OM, Pithon MM. Clouston syndrome associated with eccrine syringofibroadenoma. An Bras Dermatol. 2014;89:504-6.
Arif T, Amin SS, Adil M, Mohtashim M. Diffuse palmoplantar keratoderma, onychodystrophy, universal hypotrichosis and cysts. Acta Dermatovenerol Croat. 2017;25:161-3.
Baris HN et al. A novel GJB6 missense mutation in hidrotic ectodermal dysplasia 2 (Clouston syndrome) broadens its genotypic basis. Br J Dermatol. 2008;159:1373-6.
Singh MP, Singh M, Singh M, Tripathi P. Clouston Syndrome with Palmoplantar Keratoderma. J Indian Acad Oral Med Radiol. 2011;23:425-8.