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Sections Congenital Hypertrichosis Lanuginosa
Overview
Presentation
DDx
Workup
Treatment
Medication
Media Gallery
References

Presentation

History

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

Differential Diagnoses

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Baumeister FA, Egger J, Schildhauer MT, Stengel-Rutkowski S. Ambras syndrome: delineation of a unique hypertrichosis universalis congenita and association with a balanced pericentric inversion (8) (p11.2; q22). Clin Genet. 1993 Sep. 44(3):121-8. [QxMD MEDLINE Link].
De Raeve L, Keymolen K. Congenital hypertrichosis lanuginosa in a father and son. Arch Dermatol. 2011 Jun. 147(6):746-7. [QxMD MEDLINE Link].
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Tadin M, Braverman E, Cianfarani S, et al. Complex cytogenetic rearrangement of chromosome 8q in a case of Ambras syndrome. Am J Med Genet. 2001 Jul 22. 102(1):100-4. [QxMD MEDLINE Link].
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von Luschan F. Ein Haarmensch. Zeitschrift fur Ethnologie. 1907. 39:425-9.
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Media Gallery

Family of Petrus Gonzales, who lived in the 16th century.
Patients in well-documented cases of Ambras syndrome. (A) Daughter of Petrus Gonzales. (B) Grandson of Schwe Maong. (C) Adrrian Jepticheff. (D) Fedor.

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Author

Dirk M Elston, MD Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Specialty Editor Board

Michael J Wells, MD, FAAD Dermatologic/Mohs Surgeon, The Surgery Center at Plano Dermatology

Michael J Wells, MD, FAAD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, Texas Medical Association

Disclosure: Nothing to disclose.

Jeffrey P Callen, MD Professor of Medicine (Dermatology), Chief, Division of Dermatology, University of Louisville School of Medicine

Jeffrey P Callen, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American College of Physicians, American College of Rheumatology

Disclosure: Received income in an amount equal to or greater than $250 from: Biogen US (Adjudicator for study entry cutaneous lupus erythematosus); Priovant (Adjudicator for entry into a dermatomyositis study); IQVIA (Serono - adjudicator for a study of cutaneous LE) <br/>Received honoraria from UpToDate for author/editor; Received royalty from Elsevier for book author/editor; Received dividends from trust accounts, but I do not control these accounts, and have directed our managers to divest pharmaceutical stocks as is fiscally prudent from Stock holdings in various trust accounts include some pharmaceutical companies and device makers for these trust accounts for: Stocks held in various trust accounts: Allergen; Amgen; Pfizer; 3M; Johnson and Johnson; Merck; Abbott Laboratories; AbbVie; Procter and Gamble;; Celgene; Gilead; CVS; Walgreens; Bristol-Myers Squibb.

Chief Editor

William D James, MD Paul R Gross Professor of Dermatology, Vice-Chairman, Residency Program Director, Department of Dermatology, University of Pennsylvania School of Medicine

William D James, MD is a member of the following medical societies: American Academy of Dermatology, Society for Investigative Dermatology

Disclosure: Received income in an amount equal to or greater than $250 from: Elsevier; WebMD<br/>Served as a speaker for various universities, dermatology societies, and dermatology departments.

Additional Contributors

Leonard Sperling, MD Chair, Professor, Department of Dermatology, Uniformed Services University of the Health Sciences

Leonard Sperling, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Sarah K Taylor, MD Staff Physician, Eisenhower Army Medical Center Dermatology, Ft Gordon

Disclosure: Nothing to disclose.

Kenneth J Galeckas, MD Assistant Professor, Department of Dermatology, Uniformed Services University of the Health Sciences; Staff Dermatologist, Director, Laser and Cosmetic Clinic, Intern and Medical Student Coordinator, Department of Dermatology, National Naval Medical Center

Kenneth J Galeckas, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Society for Dermatologic Surgery, Association of Military Dermatologists

Disclosure: Nothing to disclose.

Acknowledgements

The authors and editors of Medscape Reference gratefully acknowledge the contributions of previous authors, Abby S. Van Voorhees, MD, and Analisa Halpern Vincent, MD to the development and writing of this article.

Sections Congenital Hypertrichosis Lanuginosa
Overview
Presentation
DDx
Workup
Treatment
Medication
Media Gallery
References

Congenital Hypertrichosis Lanuginosa Clinical Presentation

History

Physical Examination

Congenital hypertrichosis lanuginosa

Ambras syndrome

References

Tables

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