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Year : 2020  |  Volume : 21  |  Issue : 1  |  Page : 47-49

Woolly hair with palmoplantar keratoderma without cardiac abnormality: A rare case report

Department of Dermatology, IGMCRI, Puducherry, India

Date of Submission16-Jul-2019
Date of Decision26-Jul-2019
Date of Acceptance18-Oct-2019
Date of Web Publication24-Dec-2019

Correspondence Address:
Dr Saritha Mohanan
Department of Dermatology, IGMCRI, Kathirkamam, Puducherry - 605 107
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijpd.IJPD_73_19

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Woolly hair is a rare hair shaft abnormality characterized by extremely curly hair. It can occur in isolation or be associated with palmoplantar keratoderma (PPK) and cardiac defects. Here, we report a 3-year-old child with woolly hair and PPK without any cardiac manifestations. We report this case because of its rarity and to stress the importance of cardiac assessment in children with woolly hair.

Keywords: Naxos syndrome, palmoplantar keratoderma, woolly hair

How to cite this article:
Mohanan S, Krishnappan A, Carounanidhi U, Bhat RV. Woolly hair with palmoplantar keratoderma without cardiac abnormality: A rare case report. Indian J Paediatr Dermatol 2020;21:47-9

How to cite this URL:
Mohanan S, Krishnappan A, Carounanidhi U, Bhat RV. Woolly hair with palmoplantar keratoderma without cardiac abnormality: A rare case report. Indian J Paediatr Dermatol [serial online] 2020 [cited 2020 Apr 8];21:47-9. Available from: http://www.ijpd.in/text.asp?2020/21/1/47/273838

  Introduction Top

Woolly hair is a hair shaft abnormality characterized by extremely curly hair having a rough texture.[1] It can occur in isolation as dominant/recessive inherited forms or be associated with focal palmoplantar keratoderma (PPK). This association is seen in two cardiocutaneous syndromes, namely Naxos disease and Carvajal syndromes. Here, we report a 3-year-old female patient, born of the second degree consanguineous marriage, with woolly hair and PPK without cardiac involvement.

  Case Report Top

A 3-year-old female child was brought to our dermatology outpatient department with complaints of abnormal hair texture since birth and thickening of palms and soles since 1 year of age. There were no similar lesions in her siblings. The developmental milestones of the child were normal. On general examination, the child was active and thriving well. Cutaneous examination revealed diffuse PPK with well-defined borders [Figure 1]. Scalp hair was tightly curled and brown with coarse texture [Figure 2]. The (vellus) hair on the body, nails, and teeth were normal. Cardiology consultation, electrocardiogram, and echocardiogram with the cardiologist did not reveal any cardiac abnormality. Skin biopsy from the soles did not show epidermolytic hyperkeratosis [Figure 3]. The patient was given topical keratolytics, after which the plaques reduced in thickness. Genetic counseling was offered to the parents. The patient is on regular follow-up. We could not do genetic analysis on the patients or her family members due to financial constraints.
Figure 1: Diffuse palmoplantar keratoderma with well-defined borders

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Figure 2: Scalp showing tightly coiled hair

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Figure 3: Skin biopsy showing massive hyperkeratosis (H and E, ×10)

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  Discussion Top

There are four types of woolly hair, including dominant, recessive, acquired, and nevus.[1] Woolly hair usually appears as a solitary problem but has been reported in conjunction with a series of cutaneous and extracutaneous abnormalities. The evaluation of patients with diffuse congenital woolly hair includes the following: complete family history, skin examination to identify keratosis pilaris, PPK, webbed neck, facial dysmorphism, skin fragility, koilonychia, and hypoplastic nails and teeth; systemic examination to exclude cardiac involvement, progressive neurologic degeneration, osteoma cutis, short stature, deafness, and hypogonadism.[2] Our patient had woolly hair in association with PPK, without any other cutaneous or systemic abnormalities. The prevalence of woolly hair with keratoderma worldwide is unknown.

Naxos disease (Online Mendelian Inheritance in Man [OMIM] 601214) is a recessive form of arrhythmogenic right ventricular dysplasia with woolly hair and PPK, with a significant risk of heart failure and sudden death. Naxos disease may affect up to 1 in 1000 people from the Greek islands. Carvajal syndrome (OMIM 605676) has predominantly left ventricular involvement and earlier onset of heart disease. Both are characterized by the combination of PPK, woolly hair, and cardiomyopathy. PPK in Carvajal syndrome is of striate type as compared to diffuse keratoderma seen in Naxos disease.[3] In Carvajal syndrome, the development of dilated cardiomyopathy becomes clinically apparent, usually during childhood.[4] Both Naxos disease and Carvajal syndrome have been reported in India.[5],[6],[7],[8]

Mutations in desmosomal proteins are usually seen in patients with these phenotypes. A 2-base pair deletion in the JUP gene, encoding the desmosomal protein plakoglobin, has been shown to cause Naxos disease and mutations in the gene desmoplakin (DSP), which encodes DSP, another desmosomal protein, has been shown to cause Carvajal syndrome.[9] A homozygous mutation in a third desmosomal gene, DSC2, encoding desmocollin-2, was found to cause a Naxos-like phenotype in two siblings who presented with arrhythmogenic right ventricular cardiomyopathy, mild PPK, and woolly hair (OMIM 610476). Exceptionally, KANK2 mutation was recently found to cause the combination of woolly hair and keratoderma without cardiomyopathy through a nondesmosomal mechanism.[10] It is only by way of genetic analysis that we can confirm if our patient has Naxos disease or KANK2 mutation; however, the parents did not consent to the test.

Truncation of the DSP protein in the skin could lead to impairment of the binding of keratins to the desmosome in stressed areas; it is likely that the same mechanism causes disruption of hard keratins in the hair and desmin filaments in the heart muscle. It is not clear why DSP and plakoglobin mutations affect only the skin, muscle, and heart when they are expressed in other types of tissues.[9]

Phenotypes described in Carvajal syndrome can affect just the skin; skin and heart; skin, hair, and heart; or just the heart. The careful clinical evaluation and close long-term follow-up are therefore required for all patients with skin/hair abnormalities who harbor mutations in the DSP gene to assess the possibility of a cardiocutaneous syndrome.[11] Our patient is currently on regular follow-up for monitoring cardiac manifestations.

We report this case to highlight the importance of systemic and general cutaneous examination along with long-term follow-up while managing a patient with woolly hair.

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

Chien AJ, Valentine MC, Sybert VP. Hereditary woolly hair and keratosis pilaris. J Am Acad Dermatol 2006;54:S35-9.  Back to cited text no. 1
Zandi S, Farajzadeh S. A new cardiac manifestation associated with woolly hair: Report of two cases of woolly hair, Palmoplantar Keratoderma, and mitral valve regurgitation. Int J Dermatol 2007;46:952-4.  Back to cited text no. 2
Srinivas SM, Kumar P, Basavaraja GV. Carvajal syndrome. Int J Trichology 2016;8:53-5.  Back to cited text no. 3
Prompona M, Kozlik-Feldmann R, Mueller-Hoecker J, Reiser M, Huber A. Images in cardiovascular medicine. Magnetic resonance imaging characteristics in Carvajal syndrome (variant of Naxos disease). Circulation 2007;116:e524-30.  Back to cited text no. 4
Salam AA, Remadevi KS, Kurup RP. Naxos disease and carvajal variant. Indian Pediatr 2013;50:596-8.  Back to cited text no. 5
Krishnamurthy S, Adhisivam B, Hamilton RM, Baskin B, Biswal N, Kumar M. Arrhythmogenic dilated cardiomyopathy due to a novel mutation in the desmoplakin gene. Indian J Pediatr 2011;78:866-9.  Back to cited text no. 6
Meera G, Prabhavathy D, Jayakumar S, Tharini G. Naxos disease in two siblings. Int J Trichology 2010;2:53-5.  Back to cited text no. 7
Rai R, Ramachandran B, Sundaram VS, Rajendren G, Srinivas CR. Naxos disease: A rare occurrence of cardiomyopathy with woolly hair and palmoplantar keratoderma. Indian J Dermatol Venereol Leprol 2008;74:50-2.  Back to cited text no. 8
[PUBMED]  [Full text]  
Norgett EE, Hatsell SJ, Carvajal-Huerta L, Cabezas JC, Common J, Purkis PE, et al. Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and Keratoderma. Hum Mol Genet 2000;9:2761-6.  Back to cited text no. 9
Ramot Y, Molho-Pessach V, Meir T, Alper-Pinus R, Siam I, Tams S, et al. Mutation in KANK2, encoding a sequestering protein for steroid receptor coactivators, causes Keratoderma and woolly hair. J Med Genet 2014;51:388-94.  Back to cited text no. 10
Petrof G, Mellerio JE, McGrath JA. Desmosomal genodermatoses. Br J Dermatol 2012;166:36-45.  Back to cited text no. 11


  [Figure 1], [Figure 2], [Figure 3]


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