Do you know this syndrome?^*

Você conhece esta síndrome?

Abstracts

Congenital Hypertrichosis Lanugionsa is a rare autosomal dominant genetic disorder, with fewer than 50 cases reported in the literature. It is characterized by excessive lanugo hair, sparing only the mucous membranes, palms and soles. It may be associated with other organic abnormalities and should form part of the dermatologist's current knowledge. We discuss some aspects of the syndrome in question arising from the case report of a 2-year-old female patient, black, with classic clinical presentation, with no other associated congenital abnormalities.

Congenital abnormalities; Hypertrichosis; Laser

A hipertricose Lanugionsa Congênita é uma desordem genética rara, autossômica dominante, com menos de 50 casos descritos na literatura. É caracterizada por pêlo lanugo excessivo, poupando apenas membranas mucosas, palmas e plantas. Pode estar associada a outras anormalidades orgânicas, devendo ser de conhecimento do dermatologista. Discutiremos aspectos da síndrome em questão a partir do relato de caso de uma paciente do sexo feminino, negra, 02 anos, com apresentação clínica clássica, sem outras anormalidades congênitas associadas.

Anormalidades congênitas; Hipertricose; Laser

CASE REPORT

The case described here refers to a female patient, black, 2-years-old, accompanied by her mother who reported the increase of hair in the external ear and face of her baby since birth. At 5 months, the thin, light blond lanugo hair covered the entire face, armpits, groin and lower limbs. The parent denied the presence of lanugo hair on the mucous membranes, palms and plants. The patient was born by cesarean delivery at term and had had normal psychomotor development, but with delayed dentition. The dental units available were deformed. The child's parents were second cousins. The mother denied the use of drugs or alcohol during pregnancy, as well as any family members with similar signs or symptoms. On examination, the patient had long thin and light-colored hair on the face, especially on the upper lip and mandibular regions, axillae, external genitalia, back and lower limbs (Figures 1 and 2 ). The presence of five abnormal dental units was observed. The patient, showing no other associated anomalies, was diagnosed with Congenital Hypertrichosis Lanuginosa, and referred for evaluation to the dentistry, genetics and ophthalmology clinics.

FIGURE 1
Child with lanugo hair distributed over entire body, sparing mucosal, palms and soles

FIGURE 2
Detail of long lanugo hair in the axilla

DISCUSSION

Congenital Hypertrichosis Lanuginosa (CHL) is a rare autosomal dominant disorder with variable expressivity, characterized by excessive lanugo hair, sparing only mucous membranes, palms and soles.¹ It may be associated with other congenital abnormalities, mainly dental, but can also affect the ears, as well as being a symptom of glaucoma, pyloric stenosis, skeletal disorders and, more rarely, mental retardation.² CHL is a sporadic disease.³ Clinical manifestations occur because there is no replacement of the lanugo hair by vellus or terminal pili.⁴ Some 50 cases have been reported in the literature, with an estimated incidence of 1:10,000,000. The condition may get worse during childhood and puberty, causing serious social and aesthetic impacts. Aesthetic correction of the excessive hair is the priority treatment, although the results are disappointing. Several depilatory procedures can be used such as hair removal lasers, creams, razors etc, to improve the patient's appearance. Published reports exist of the use of laser Q-switched Nd: YAG, effecting a reduction of 40-80% of the hair density, with little pain and low fluences.⁵ Management of CHL also includes dental care, while genetic counseling is mandatory.

The differential diagnosis embraces diseases related to hypertrichosis in childhood including: universal hypertrichosis, Ambras syndrome, hypertrichosis linked X (Table 1).⁶

Table 1
Differencial diagnosis of hypertricosis in childhood

Name	Genetic Background	Clinical Features
Congenital Hypertrichosis Lanuginosa	Autosomal dominant	Fine, gray to blond lanugo hair.
Universal hypertrichosis	Autosomal dominant	Thicker, long hair most prominent on face, back and proximal extremities.
		Increases during childhood and tends to persist.
Ambras syndrome	Autosomal dominant (8q22)	Fine, silky long hair uniformly distributed on the face, ears and shoulders
		Persists for life
		Minor facial abnormalities, dental and supernumerary nipples
X-linked hypertrichosis	X-linked (Xq24-q27.1)	Curly, short, dark hair on the face and upper body
		Anteverted nostrils, prognathism,dental anomalies, deafness

• Adaptated: Bolognia JL, et al. 20106

Recognition of the disease is important for screening other potential abnormalities and instituting genetic counseling.

REFERENCES

• ¹
  Beighton P. Congenital hypertrichosis lanuginosa. Arch Dermatol. 1970;101:669-72.
• ²
  Mendiratta V, Harjai B, Gupta T.Hypertrichosis lanuginosa congenita. Pediatr Dermatol. 2008;25:483-4.
• ³
  Gupta LK, Khare AK, Mittal A, Garg A. Congenital hypertrichosis lanuginosa. Indian J Dermatol Venereol Leprol. 2010;76:699-700.
• ⁴
  De Raeve L, Keymolen K. Congenital hypertrichosis lanuginosa in a father and son. Arch Dermatol. 2011;147:746-7.
• ⁵
  Littler CM.Laser hair removal in a patient with hypertrichosis lanuginosa congenita. Dermatol Surg. 1997;23:705-7.
• ⁶
  Bolognia JL, Jorizzo JL, Rapini RP. Dermatologia - Bolognia - 2. ed. Rio de Janeiro: Elservier; 2010.

• *
  Study conducted at the Federal University of Bahia Dermatology Center, Professor Edgar Santos Hospital Complex (COMHUPES-UFBA) - Salvador (BA), Brazil.

Publication Dates

• Publication in this collection
  June 2013

History

• Received
  03 July 2012
• Accepted
  23 July 2012