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Rajani H.S., Narayanappa D.
Department of Pediatrics, JSS Medical College, JSS Academy of Higher Education and Research
Mysore, India

Keywords: hair, twins, teenagers.

Abbreviation: WH = woolly hair.

Case report. A 13-year-old teenager was born from a marriage between third degree consanguineous parents; during a hospitalization for enteric fever physicians noticed that she had very curly, sparse and short hair. Parents reported that her hair was sparse at birth and then became progressively curly and unmanageable. There was no history of developmental delay or intellectual disability, nor was there systemic involvement. A similar history was also present in her twin, a 13-year-old female. There was no history of similar problems in the parents and the older sister.
Physical examination showed short, very curly, poorly pigmented, brittle, dry and sparse hair (Fig. 1, 2). The hair on the body and pubic region was sparse; the lashes of the lower eyelid and the outer third of the eyebrow were also sparse. The nails were flat with transverse ridges, whereas the teeth were normal. There were no facial dysmorphisms, the skin and other organs appeared normal. Once the patient had recovered from the enteric disorder, all laboratory investigations were within normal limits, as well as cardiological examinations and chest X-rays. Clinical data led us to diagnose autosomal recessive familial generalized woolly hair syndrome.

Fig. 1: Sparse, short, thin, coiled, hypopigmented, brittle, woolly hair present all over the scalp in a 13-year-old teenager.

Discussion. Woolly hair syndrome (3) encompasses a spectrum (5, 6) of conditions associated with defects in the structure of the hair shaft with very curly hair similar to that of black Africans in Caucasian and Asian individuals (4, 7). Woolly hair (WH) can be familial and inherited in an autosomal recessive manner. At birth, the hair shaft is noticeably smaller than the norm, the hair is poorly pigmented and curly. Due to a shorter anagen phase, hair usually only grows to 2-3 cm (5) in subsequent years; in the anagen phase the hair root is usually dystrophic and without sheaths. In cross section, the hair follicle appears oval rather than round. The curly hair of woolly hair differs from that of African blacks because in the latter the hair is separated from each other while in the former the WH tend to merge (13).
The autosomal dominant form of woolly hair can be associated with tricorrhexis nodosa characterized by brittle hair (11). Generalized variants of WH are associated with various syndromes such as Noonan syndrome, keratosis pilaris and cardiofaciocutaneous syndrome. In the autosomal recessive variant, palmoplantar keratoderma and cardiac anomalies can be observed (1). Naxos disease is characterized by the triad generalized WH, palmoplantar keratoderma and right ventricular dysplasia resulting in dilated cardiomyopathy and occurs due to mutation of genes encoding placoglobin (13). Another related condition that occurs due to mutation of the gene that codifies for desmoplachin is Carvajal syndrome which differs from Naxos syndrome for the involvement of the left ventricle and early onset. WH can be associated with acral hyperkeratosis, nail dystrophies, congenital pachyonychia, periodontal changes, dental caries, natal tooth, cicatricial alopecia, ichthyosis, deafness, facial and ocular abnormalities (2, 9, 10, 12).
There are also acquired WHs linked to the intake of certain medications such as retinoids and valproate (8, 13).
The classic clinical presentation is sufficient for the diagnosis. However, a thorough general systemic examination and relevant investigations such as echocardiography should be performed to rule out any associated syndromes. There is no definitive treatment for WH syndrome (10). It is helpful to avoid physical and chemical insults to the hair and to use oily conditioners regularly. In some cases, hair can become more pigmented and less curly over time (11).
Conclusion. There are several types of woolly hair; it is useful to remember that woolly hair can be associated with severe systemic conditions, which must be sought with pertinent investigation.

Conflicts of interest
The Authors declare that they have no conflicts of interest.

Address to:
Dr. Hassan Sreenivasamurthy Rajani
Department of Pediatrics, JSS Hospital Mahatma Gandhi Road
Mysore 570004, India
e-mail: rajanihs@jssuni.edu.in

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