Woolly Hair with Complete Atrioventricular Dissociation: A Rare Association.

Woolly hair is a rare congenital abnormality of structure of the scalp hair characterized by tightly coiled hair involving part or the entire scalp. There are mainly two types of woolly hair; autosomal dominant/hereditary woolly hair and autosomal recessive/familial woolly hair. We hereby report two cases of autosomal recessive/familial woolly hair from a single family associated with complete atrioventricular dissociation in one sibling, which is a very rare association and only a single case has been reported in literature with this association. This case report signifies the importance of cardiac evaluation in woolly hair and stresses the fact that hair examination is not just cosmetic but can be lifesaving.

INTRODUCTION

Woolly hair syndrome is a group of disorders involving structural defects in the hair shaft characterized by extreme kinkiness of scalp hair commonly seen in Caucasians and Asians.[1] We hereby report two cases of autosomal recessive woolly hair associated with complete atrioventricular dissociation.

CASE REPORT

A 13-year-old girl presented to the Outpatient Department with complaints of curly hairs on their scalp. On examination, the girl had thin, hypopigmented, and curly hairs over her entire scalp, and they were all just few centimeters away from the scalp [Figure 1a]. On eliciting history and examining, her elder brother also revealed similar hair [Figure 1b]. They seldom required hair cutting. They were born of the first degree consanguineous marriage, and none of the family members was affected. All other investigations were normal for both except electrocardiogram of the brother, which revealed complete atrioventricular dissociation with junctional escape rhythm [Figure 2a]. Trichoscopy showed “crawling snake appearance” with short wavy hairs [Figure 2b].

Figure 1

(a) Female sibling with short, sparse, hypopigmented, curly hairs on her scalp (b) Elder brother with dark, short, and tightly curled hairs with diameter of curls not more than 0.5 cm

Figure 2

(a) Electrocardiogram of male sibling showing sinus rhythm of 110/min and complete atrioventricular dissociation with ventricular escape rhythm at rate of 50/min (b) trichoscopy showing “crawling snake” appearance with short waves on scalp hair (×400)

Based on history, clinical features, trichoscopy, and echocardiographic findings, a diagnosis of autosomal recessive/familial woolly hair was made.

DISCUSSION

In 1907, Gossage was the first to describe a case of woolly hair in a European family, comparing this hair anomaly with the characteristic curly hair of black people.[2]

In 1974, Hutchinson et al. classified woolly hair into three variants; a localized variant: Woolly hair nevus and two generalized variants: Autosomal dominant/hereditary woolly hair and autosomal recessive/familial woolly hair.[3] In addition to this, diffuse partial woolly hair has also been described.[4]

Trichoscopy of hair shafts will reveal a “crawling snake” appearance and it has been referred as “The Medusa head” since it has been likened to the head of Greek mythical character Medusa, whose scalp hair was made of living snakes.[5]

Woolly hair in association with cardiac defects can be seen in Noonan's syndrome, cardiofaciocutaneous syndrome, Naxos disease, and Carvajal disease. Naxos disease is due to a mutation in plakoglobin gene and characterized by the woolly hair, palmoplantar keratoderma and dilated cardiomyopathy with right ventricular dysplasia.[6] Carvajal disease due to a mutation in the desmoplakin gene is similar clinically to Naxos disease, except for left ventricular involvement and presentation at a younger age.[7]

Our cases did not fit into any of the syndromes described above, and we concluded that our cases were autosomal recessive woolly hair syndrome associated with complete atrioventricular block, which itself is a rare association and only a single case with this

association has been reported before in literature.[8] Variable phenotypic expressivity was also noted since only the elder brother had cardiac conduction defect. Hence, we suggest that woolly hair is a heterogenous condition and genes other than desmoplakin/plakoglobin may be involved in its etiology. Gene studies could not be carried out in our case due to economic constraints.

This case report signifies the importance of systemic examination in the woolly hair especially; cardiac evaluation should be done in every case to identify its association so that patients can be managed effectively from early stages. It can be stressed that hair examination is not just cosmetic but gives valuable lifesaving information.