Woolly Hair Syndrome: A Case Report

Dr. Dhiral Shah

MBBS, MD (D.V.L)

Fellowship in Aesthetic Medicine

Consultant Dermatologist & Cosmetologist

Ashirwad Hospital, Gota, Ahmedabad

Dr. Yogesh S. Marfatia

Professor (Skin & VD)

SBKS Medical Institute and Research Centre

Vadodara, Gujarat

Abstract

Woolly hair can be due to autosomal dominant or recessive inheritance or as a part of complex syndromes like Naxos disease and Carvajal syndrome. A 13 year old girl born of consanguineous marriage presented to Dermatology clinic with woolly hair and multiple hyperkeratotic crusted plaques with few bullae over back, buttocks, bilateral knees and legs. X-ray Chest, ECG and 2-D ECHO were not indicative of arrhythmia or cardiomyopathy. Naxos disease and Carvajal syndrome show similar cutaneous manifestations whereas Cardiac manifestation of arrythmogenic right ventricular dilated cardiomyopathy (ARVC) is seen in Naxos disease and left ventricular dilated cardiomyopathy in Carvajal syndrome. Though skin and hair changes are present since birth, ARVC starts at or after adolescence. Our case has entered into adolescence and hence it is prudent to periodically evaluate her for cardiac manifestations so as to offer suitable interventions and thereby decrease morbidity.

Key-words: Woolly hair, Plantar keratoderma, Naxos disease, Carvajal syndrome

Introduction

Woolly hair can occur as an autosomal dominant trait or autosomal recessive inheritance or as woolly hair naevus. Whenever woolly hair is associated with any kind of palmo-plantar keratoderma, a search for possible cardiac abnormalities is recommended. It may be a forerunner of Naxos disease [Arrythmogenic right ventricular dilated cardiomyopathy (ARVC)] or

Carvajal syndrome [Left ventricular dilated cardiomyopathy]. It is thus essential to screen such cases for relevant systemic involvement. Affected families have been detected in Greek islands with a prevalence of 1:1,000. Cases have also been reported in Turkey, Israel and Saudi Arabia and two cases have been reported from India.

Case History

A 13 year old girl born of consanguineous marriage presented to Dermatology clinic with woolly hair and skin lesions over abdomen, back, buttocks, thighs and bilateral lower legs since birth. No family history of similar complaints. Her birth and developmental history had been normal. Height was 138 cm and weight 32 kg. Her vitals were normal. On cutaneous examination, multiple hyperkeratotic psoriasiform crusted plaques with few bullae were present on back, buttocks, bilateral knees and legs. Other significant findings were plantar keratoderma, follicular keratosis. Bilateral finger and toe nails showed onychogryphosis. Other systemic examination did not reveal any abnormality. X-ray Chest showed no cardiomegaly. ECG was not indicative of arrhythmia. 2D- ECHO showed good biventricular function with no dilatation. Genetic screening could not be done. Patient was provisionally diagnosed to have Naxos disease or Carvajal syndrome. At present, as our case has no cardiac symptom, counselling has been done regarding periodic follow up and regular cardiac screening. Tablet Acitretin 10 mg orally daily and Salicylic acid 12% ointment application on soles has been started.

Discussion

• Naxos disease and Carvajal syndrome are disorders with mutations in JUP and DSP gene respectively. These genes encode for desmosomal proteins, plakoglobin and desmoplakin, so mutation results in weakening and disruption of desmosomes and adherens junctions of myocardium and epidermis predominantly.

Though skin and hair changes are present since birth, ARVC starts at or after adolescence and the penetrance of the disease in individuals with a plakoglobin gene mutation is shown to be 100%.1

• If the cause is a plakoglobin gene mutation, patients can present with syncope and palpitation (caused by ventricular tachycardia). If the cause is a desmoplakin gene mutation, the predominant findings are related with heart failure.

• Ali Baykan, Seref Olgar et al. reported 6 paediatric patients with woolly hair and palmoplantar keratoderma; 2 cases presented with ventricular tachycardia attack and 2 cases with severe heart failure while 2 cases having only cutaneous findings without cardiac involvement at time of diagnosis.2

• Since our case had no cardiac symptom, parents were counseled regarding significance of regular follow-up of this patient.

• Primary objective of treatment is the prevention of prolonged arrhythmia attacks and sudden cardiac deaths. Thrombus may develop as a result of severe heart failure or recurrent and prolonged arrhythmias or may be due to myocardial hypokinesia related to advanced cardiomyopathy.3 So, Periodic monitoring and initiation of treatment at the time of cardiac symptoms will prevent sudden death.

• On Conclusion, for cases with woolly hair and palmoplantar keratoderma, cardiac assessment is must considering Naxos or Carvajal disease along with gene mutation study if feasible.

• Early diagnosis, periodic cardiac assessment and treatment of arrhythmias and heart failure may increase life expectancy of children. Referral to cardiac physician at the time of presentation is essential.

References

1. Protonotarios N, Tsatsopoulou A. Naxos disease: cardiocutaneous syndrome due to cell adhesion defect. Orphanet J Rare Dis 2006; 1: 4.

2. Ali Baykan, Seref Olgar & Mustafa Argun : Different clinical presentations of Naxos disease and Carvajal syndrome:Case series from a single tertiary center and review of the literature. Anatol J Cardiol 2015; 15:404-8

3. Narin N, Akcakus M, Gunes T, Celiker A, Baykan A, Uzum K, et al.Arrhythmogenic right ventricular cardiomyopathy (Naxos disease): reportof Turkish boy. Pacing Clin Electrophysiol 2003; 26: 2326-9