Universal congenital hypertrichosis can be a primary or secondary feature of a disease or syndrome

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Universal Congenital Hypertrichosis

Universal congenital hypertrichosis can be divided into two groups viz. one in which the congenital syndrome has universal hypertrichosis as its primary feature and second in which the congenital syndrome has universal hypertrichosis as its secondary feature.

Congenital syndromes where universal hypertrichosis is a primary feature

Congenital hypertrichosis lanuginosa: This is a rare inherited disorder where the excess prenatal lanugo hairs, which are shed during pregnancy, are retained after birth over the entire body except the palms, soles and the mucous membranes. However, few cases were examined under the microscope, so the hair could be vellus rather than lanugo. Many children born with hypertrichosis lanuginosa shed hairs on the trunks and limbs in late childhood, but retain some excess hair through their lives. Often the disorder is associated with dental abnormalities. Congenital hypertrichosis is an autosomal dominant trait but sporadic cases have been reported.

Hypertrichosis with gingival fibromatosis: Here hypertrichosis hairs appear over the face, trunk and eyebrows in early childhood accompanied by progressive gingival hyperplasia. The hypertrichosis and hyperplasia may not appear at the same time. It is an autosomal dominant inherirance but cases of autosomal recessive inheritance and de novo mutations have also been reported. Mental retardation has been reported in 50 percent of cases. Antiepileptic drugs and cyclosporine can also cause this disorder.

Hypertrichosis, pigmentary retinopathy and facial anomalies: In one case, a 22 month child had universal hypertrichosis along with hyperpigmentation of the face and extremities, facial abnormalities and pigmentary retinopathy. There were long pigmented hairs on the back, face and extremities but none on the palms, soles, mucous membranes and anterior torso. Biopsy of the skin revealed large numbers of smooth muscle fibers as in localized congenital smooth muscle harmatoma and could be a related condition.

Congenital syndrome where universal hypertrichosis is a secondary condition

Brachmann de Lange syndrome: This syndrome shows hypertrichosis in children accompanied by severe and constant mental retardation. The excess and persistent lanugo hair growth occurs at birth or infancy on the forehead, back, shoulders and extremities. The growth is secondary and not as confluent. Infants develop easily recognizable features, which include distinctive faces, secondary to a low hairline, penciled but not bushy eyebrows, long eyelashes and thin lips. They also have relatively constant growth retardation like short arms. The syndrome is usually sporadic but may be an autosomal dominant inheritance.

Porphyrias: Porphyrias are systemic disorders where porphyrins accumulate on the skin due to an enzymic defect. They occur sporadically and can be autosomal inherited. Their appearance is often provoked by agents like chemicals.

Porphyria cutanae tarda is the most common type seen with mild to extensive hypertrichosis in 60 percent cases. A severe type can be provoked by hexachlorobenzene. Children affected by it acquire a monkey-like appearance. The disorder disappears after hexachlorobenzene exposure ceases.

Erythropoeitic porphyrias are characterized by severe cutaneous photosensitivity due to excitation of the porphyrins by ultra violet light. These cause scarring and hypertrichosis on the sun exposed areas.

Other hypertrichosis producing porphyrias are hepatoerythropoetic porphyria and variegate porphyria.

Lipoatrophy: Lipoatrophic diabetics are frequently associated with hypertrichosis of the scalp, neck, face and extremities, It is an autosomal recessive condition. The hypertrichosis increases with age. Other features include insulin resistant diabetes, external genital hypertrophy, mental retardation and cardiac, renal and ovarian abnormalities. Insulin resistant diseases like this one feature hyperandrgenism but the mechanism is not clear. It suggests androgen driven hair growth but the distribution is not typical hirsutism.

Donohue syndrome: Also known as leprechaunism, the syndrome has features of lipoatrophy. The typical features are extensive hypertrichosis of the face and trunk, extreme subcutaneous lipoatrophy and loose redundant skin. There is growth retardation before and after birth, earlier onset of insulin resistance and early increased mortality.

Mucoplysaccharidoses (MPS): MPS are caused by the deficiency of enzymes important for metabolism. The patients have short stature, typical facies, skeletal deformities, cardiac abnormalities and less frequently mental retardation. In some cases, there are lanugo hypertrichosis of the trunk but more commonly of the extremities and back. Hypertrichosis mechanism is unclear but animal studies show that it may be due to stimulation of hair growth by acid mucoplysaccharidoses leading to accumulation of glycosaminoglycans in the skin.

Stiff-skin disorder features stone hard skin, less joint mobility and mild hypertrichosis. The hypertrichosis, present in half the reported cases, usually remains stable. The most frequent complication is restricted lung capacity due to stiff skin.

Coffin-Siris syndrome involves lumbosacral and eyebrow hypertrichosis. The characteristics are missing finger and toenails, mental and growth retardation, joint laxity and coarse facial features. The transmission mode is not definitely known but is probably autosomal recessive. The gene for this syndrome is unknown but studies on two patients indicated that it could be on chromosome 7.


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