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Print version ISSN 0365-0596
An. Bras. Dermatol. vol.85 no.1 Rio de Janeiro Jan./Feb. 2010
Tiago TorresI; Susana MachadoII; Manuela SeloresIII
IIntern Physician in Dermatovenereology; Dermatology Service, Centro Hospitalar do Porto, Hospital de Santo Antonio - Porto, Portugal
IIAssociate professor of Dermatology at Faculdade de Biomedicas da Universidade do Porto; Hospital Assistant; Dermatology Service, Centro Hospitalar do Porto - Hospital de Santo Antonio - Porto, Portugal
IIIProfessor and Head of Dermatology at Faculdade de Biomedicas da Universidade do Porto; Head of Dermatology Service, Centro Hospitalar do Porto - Hospital de Santo Antonio - Porto, Portugal
The term woolly hair, or tightly curled hair, refers to a structural anomaly of scalp hair, which can be partial or generalized. Generalized woolly hair variants are rare and can occur in isolation or in association with other cutaneous and extra-cutaneous abnormalities. Thus, it is important to dismiss in these patients the diagnosis of syndromes such as the Noonan syndrome and Cardiofaciocutaneous syndrome, which have high morbidity and mortality rates. We report the clinical case of a 7 year-old boy with generalized woolly hair and keratosis pilaris. After an evaluation of organs and systems, no alteration or characteristics associated with these syndromes were found.
Keywords: Palmoplantar keratoderma; Hair diseases; Noonan syndrome
The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. It was first described by Gossage1 in 1907. Later, in 1974, Hutchinson et al.2 classified woolly hair into three variants: a localized variant, designated woolly hair nevus, and two generalized variants: autosomal dominant hereditary woolly hair and autosomal recessive familial woolly hair. Generalized variants of woolly hair can occur in isolation or in association with other genetic diseases, such as Noonan Syndrome, Cardiofaciocutaneous syndrome (CFC) or Naxos disease, or in association with cutaneous anomalies, such as keratosis pilaris or palmoplantar keratoderma, and extra-cutaneous anomalies, especially cardiac or of the senses.
A male child, seven years old, Caucasian, was referred to the dermatologist for presenting, since his first year of life, generalized hypothricosis. His hair grew very slowly, not more than a few centimeters. Upon objective examination, the patient seemed to be a healthy child, with normal psychomotor development, normal facial morphology (normal ear implantation length, normal teeth, normotelorism). Fine short brown hair, soft and tightly curled, involved the entire scalp, which had no alterations (Figure 1). Marked keratosis pilaris was observed on the external face of limbs and nape. The remaining dermatologic examination was normal.
The optical and electron microscopic study was compatible with the diagnosis of woolly hair (Figure 2). Optical microscopy revealed the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy showed flat, oval hair shafts with reduced transversal diameter. Cuticle alterations and presence of trichorrhexis nodosa were not observed.
Cardiac evaluation did not show auscultatory, electrocardiographic, and echocardiographic alterations; the analytical study, including zinc and iron, was normal. There was no history of similar hair abnormalities in the family or of other cutaneous alterations or medical problems, especially cardiac.
The term woolly hair refers to an abnormal variant of hair that is fine, with tight coiled curls, and often hypopigmented. In 1907, Gossage1 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. Later, in 1974, Hutchinson et al.2 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.
Wooly hair nevus is a rare, non-hereditary variant of woolly hair. It is easily distinguished from the generalized variant because it affects only part of the scalp and has a well-demarcated border. Described for the first time in 1927 by Wise et al.3, this pilous dysplasia has its onset in the first years of life for most patients. In about half of the cases it is associated with linear or verrucous epidermal nevus, which may involve the area of the affected hair.4 Ocular involvement may occur, including persistent pupillary membrane or localized loss of retinal pigment.5 For this reason, ophthalmological examination is always recommended for these patients. Woolly hair nevus syndrome is characterized by the occurrence of this capillary anomaly associated with epidermal nevus and other extra-cutaneous anomalies, such as bone, neurological, and ophthalmological alterations, and less frequently, cardiac and renal alterations.6
Generalized woolly hair affects the entire scalp and can occur in isolation or in association with other cutaneous and/or extra-cutaneous alterations. The presence of facial dysmorphism characterizes many diseases associated with woolly hair. Noonan syndrome patients show a characteristic configuration of facial features, such as low set ears, epicanthal folds, and hypertelorism. Other relevant characteristics include low stature, deafness, and cardiac abnormalities (especially pulmonary stenosis).7 Cardiofaciocutaneous syndrome is characterized by facial features similar to those found in Noonan syndrome, in addition to growth delay, ictiosis, koilonychias, and structural cardiac abnormalities.8
Keratosis pilaris belongs to a group of genodermatoses that include ulerythema ophriogenes and atrophoderma vermiculatum and, such as woolly hair, it is also found in Noonan syndrome and CFC.9,10 However, generalized woolly hair and keratosis pilaris are reported in the absence of Noonan syndrome or CFC.9
The triad of generalized woolly hair, palmoplantar keratoderma, and right ventricular cardiomyopathy defines Naxos disease11, which is a rare autosomal recessive disorder associated in most cases with mutation of a desmosomal protein, denominated placoglobine.12 Woolly hair appears right after birth, palmoplantar keratoderma develops in the first year of life, and clinical manifestation of cardiomyopathy occurs in adolescence with syncope, ventricular tachycardia, right-sided heart failure or sudden death.
Mutations of another desmosomal protein, desmoplakin, are associated with Carvajal syndrome14, characterized by generalized woolly hair, palmoplantar keratoderma, and dilated cardiomyopathy. Cardiac disease appears in infancy and generally involves the left ventricle. Therefore, with the diagnosis of generalized woolly hair, a thorough evaluation of all organs and systems, especially of the heart, must be conducted.
In woolly hair syndrome, capillary diameter is smaller than that of a normal hair. In transversal section, the follicle of the hair is oval and not round. Growth rate is normal, but generally unable to promote growth greater than a few centimeters. The ratio anagen:telogen is normal, but the anagen phase of hair growth is shorter and the hair root in this phase is usually dystrophic and has no sheath. Hair does not become more fragile, except when woolly hair is associated with trichorrhexis nodosa (common in the dominant hereditary variant and extremely rare in the recessive familial variant).2
Presence of pili annulati is more common, in which the hair seems banded by alternating segments of light and dark color when seen in light microscopy. The localized variant, woolly hair nevus, may include other alterations such as cuticle loss, trichorrhexis nodosa, and cortical vacuolization. There is no efficient treatment, but in some patients hair may become darker and less curly with age.
In the patient, the presence of woolly hair and keratosis pilaris led to the consideration of the diagnosis of Noonan syndrome or Cardiofaciocutaneous syndrome. The absence of other alterations dismisses these diagnoses and suggests that the patient suffers from another genodermatosis, similar to that described in 1984 by Neil et al., in a family with woolly hair and ulerythema ophriogenes, in the absence of Noonan syndrome.9 The present clinical case report alerts to the importance of associating hair abnormalities with anomalies found in other organs and the consequent need for the exclusion of the latter.
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11. Rai R, Ramachandran V, Sundaram G, Rajendren C, Srinivas R. Naxos disease: a rare occurrence of cardiomyopathy with woolly hair and palmoplantar keratoderma. Indian J Dermatol Venereol Leprol. 2008;74:50-2. [ Links ]
12. McKoy G, Protonotarios N, Crosby A, Tsatsopoulou A, Anastasakis A, Coonar A, et al. Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet. 2000;17:2119-24. [ Links ]
13. Norgett EE, Hatsell SJ, Carvajal-Huerta L, Cabezas JC, Common J, Purkis PE, et al. Recessive mutation in desmoplakin disrupts desmoplakin-intermediate fila ment interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Hum Mol Genet. 2000;9:2761-6. [ Links ]
14. Carvajal-Huerta L. Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomy opathy. J Am Acad Dermatol. 1998;39:418-21. [ Links ]
Mailing Address: Recebido em 03.03.2009.
Tiago da Costa Ferreira Torres
Serviço de Dermatologia do Centro Hospitalar do Porto - Hospital de Santo António, EPE Edifício das consultas externas, ex-Cicap
Rua D. Manuel II. 4100
Tel./Fax: 22 6097429 22 6097429
Aprovado pelo Conselho Consultivo e aceito para publicação em 16.06.09.
Financial Support - none
Conflict of interest - none
Recebido em 03.03.2009.