Congenital Hypertrichosis Lanuginosa Clinical Presentation

Updated: Aug 28, 2018
  • Author: Dirk M Elston, MD; Chief Editor: William D James, MD  more...
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The presenting complaint in congenital hypertrichosis lanuginosa (CHL) is an excess of body hair. Patients with congenital hypertrichosis lanuginosa are otherwise asymptomatic.

Patients with Ambras syndrome may complain of dysmorphic features of the face. These features do not impair function.

A family history of excessive body hair may exist.

No abnormalities in psychomotor, intellectual, or psychological development are known to occur.


Physical Examination

Both congenital hypertrichosis lanuginosa and Ambras syndrome share the characteristic of abnormally excessive hair growth with a consistent pattern of areas that are spared. In both disorders, hair is found only in areas where it is usually present. The palms, soles, mucous membranes, dorsal terminal phalanges, labia minora, prepuce, and glans penis are spared. [21]

Congenital hypertrichosis lanuginosa

In congenital hypertrichosis lanuginosa, most of the body is covered with fine, blond or nonpigmented hair at birth. These hairs may reach up to 10 centimeters and often blend with the darker, terminal hairs of the scalp and/or eyebrows. Whorls of hair may be noted around the sacrum, preauricular region, and pinnae.

The length of the hair and its distribution may continue to increase until the individual is aged approximately 2 years. By adulthood, patients typically lose some or all of their excessive lanugo hair.

No abnormalities of other organ systems are associated with congenital hypertrichosis lanuginosa, although solitary case reports note abnormalities such as delayed tooth eruption, diffuse hamartoma of the arrector muscles, supernumerary teeth, glaucoma, pyloric stenosis, growth and/or developmental delay, aortic and cardiac valve abnormalities (including tetralogy of Fallot), and macromastia. [15, 17, 20, 40, 41, 42]

Ambras syndrome

The entire body is covered with long, fine vellus hair, which spares only the palms, soles, and genitalia. The hypertrichosis characteristically involves the shoulders, face, nose, and ears. In some areas, the hair may be noted as long as several centimeters.

The forehead, eyelids, nose, cheeks, and preauricular regions are uniformly covered with hair, which can reach a length of several decimeters. The hair is longest over the spine. Most patients have hair in a characteristic shawl distribution on their back.

The hair of the external auditory canal is typically long and thick, and it may hinder inspection of the auditory meatus.

Abnormalities of the teeth may be present. Adontia may occur, with an absence of the upper molars and the premolar teeth and a lag in the development of the first and second dentition.

Features associated with facial dysmorphism include the following:

  • Triangular, coarse face

  • Large intercanthal distance

  • Broad palpebral fissures

  • Long, prominent back of the nose and a round nose tip

  • Large interalar distance

  • Anteverted nares

  • Short integumental lower lip

  • Flat sulcus mentolabialis

Other findings noted in solitary case reports include the following:

  • Bushy eyebrows with hair darker and coarser than that of the rest of the face, shoulders, body, and extremities

  • Hair on the forearms and legs, in excess of and darker than the rest of the hair on the extremity

  • Six accessory nipples