eMedicine Specialties > Dermatology > Diseases of the Adnexa

Congenital Hypertrichosis Lanuginosa: Differential Diagnoses & Workup

Author: Sarah K Taylor, MD, Resident Physician, Department of Dermatology, Walter Reed Army Medical Center and National Naval Medical Center
Coauthor(s): 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
Contributor Information and Disclosures

Updated: Jun 18, 2009

Differential Diagnoses

Acquired generalized hypertrichosis
Congenital hypertrichosis universalis
Hirsutism
Mucopolysaccharidoses Types I-VII
Rubinstein-Taybi Syndrome

Other Problems to Be Considered

Normal variant hypertrichosis (ie, increased total body hair)
Maternal alcohol abuse during pregnancy
Systemic illness
Hypothyroidism
Anorexia nervosa
Porphyria
Malnutrition
Mucopolysaccharidoses
GM1 gangliosidosis
Drug effects - Corticosteroids, phenytoin (Dilantin), streptomycin, hexachlorobenzene, penicillamine, cyclosporine, diazoxide, minoxidil, heavy metals, sodium tetradecyl sulfate, acetazolamide, interferon

Syndromes16,33,34

Brachmann-de Lange syndrome
Oliver-McFarlane syndrome
Coffin-Siris syndrome
Rubinstein-Taybi syndrome
Seckel syndrome
Cerebro-oculofacioskeletal syndrome
Gorlin syndrome
Schinzel-Giedion syndrome (with midface retraction)
Barber-Say syndrome
Hajdu-Cheney syndrome
Weyers acrofacial-dysostosis syndrome
Osteochondrodysplasia with hypertrichosis
Gingival fibromatosis with hypertrichosis
Amaurosis congenita (cone-rod type) with hypertrichosis
Leprechaunism
Paterson syndrome (pseudoleprechaunism)
Seip syndrome
Partial trisomy 3q syndrome

Workup

Laboratory Studies

  • No laboratory tests are indicated for patients with congenital hypertrichosis.
  • The diagnosis of congenital hypertrichosis lanuginosa (CHL) is based on clinical and histologic findings, and no laboratory workup is necessary; however, laboratory values may be used to exclude other causes of hypertrichosis.
  • The diagnosis of Ambras syndrome may be supported by inversions involving breakpoints in the region of band 8q22.

Imaging Studies

  • No imaging studies are indicated for patients with congenital hypertrichosis.

Other Tests

  • No additional tests are indicated for patients with congenital hypertrichosis.

Procedures

  • Hair biopsy for histologic classification is indicated.
  • Biopsy findings may be diagnostic because the type of hair and position of the follicle found on histopathologic analysis can be helpful in excluding alternative diagnoses.

Histologic Findings

  • Lanugo hairs tend to be nonpigmented. Vellus hair may be pigmented or nonpigmented. Lanugo and vellus hairs can be difficult to distinguish at histologic examination.

More on Congenital Hypertrichosis Lanuginosa

Overview: Congenital Hypertrichosis Lanuginosa
Differential Diagnoses & Workup: Congenital Hypertrichosis Lanuginosa
Treatment & Medication: Congenital Hypertrichosis Lanuginosa
Follow-up: Congenital Hypertrichosis Lanuginosa
Multimedia: Congenital Hypertrichosis Lanuginosa
References
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References

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Further Reading

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Keywords

congenital hypertrichosis lanuginosa, CHL, congenital hypertrichosis universalis, hypertrichosis universalis, hypertrichosis lanuginosa universalis, hypertrichosis disorders, hypertrichosis syndromes, Ambras syndrome, persistent hypertrichosis universalis, hirsutism, dog-men, hair-men, human Skye terriers, ape-men, werewolves, Homo silvestris, hypertrichosis of the dog-men, lanugo hair

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Contributor Information and Disclosures

Author

Sarah K Taylor, MD, Resident Physician, Department of Dermatology, Walter Reed Army Medical Center and National Naval Medical Center
Disclosure: Nothing to disclose.

Coauthor(s)

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, and Association of Military Dermatologists
Disclosure: Nothing to disclose.

Medical Editor

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.

Pharmacy Editor

Michael J Wells, MD, Associate Professor, Department of Dermatology, Texas Tech University Health Sciences Center
Michael J Wells, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, and Texas Medical Association
Disclosure: Nothing to disclose.

Managing Editor

Jeffrey P Callen, MD, Professor of Medicine, 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, and American College of Rheumatology
Disclosure: Amgen Honoraria Consulting; Abbott Honoraria Consulting; Electrical Optical Sciences Honoraria Consulting; Centocor Honoraria Consulting; Genetech Honoraria Consulting; Celgene Honoraria Consulting

CME Editor

Glen H Crawford, MD, Assistant Clinical Professor, Department of Dermatology, University of Pennsylvania School of Medicine; Chief, Division of Dermatology, The Pennsylvania Hospital
Glen H Crawford, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, Phi Beta Kappa, and Society of USAF Flight Surgeons
Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD, Director, Department of Dermatology, Geisinger Medical Center
Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.

 
 
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