Congenital Hypertrichosis Lanuginosa Clinical Presentation

  • Author: Sarah K Taylor, MD; Chief Editor: William D James, MD   more...
 
Updated: May 10, 2012
 

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.
Next

Physical

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, 31, 32, 33]
  • 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
Previous
Next

Causes

  • The pathogenesis of congenital hypertrichosis lanuginosa is unknown.
    • Congenital hypertrichosis lanuginosa is believed to be inherited in an autosomal dominant manner; most cases involve a familial component. Variable expressivity of inherited characteristics is noted.
    • The specific genetic abnormality in congenital hypertrichosis lanuginosa has not been defined.
    • No known hormonal or endocrinologic abnormalities have been identified.
    • Evidence suggests that some cases of congenital hypertrichosis lanuginosa are not familial. These cases likely represent spontaneous mutations .[6, 34]
  • A genetic etiology is proposed for Ambras syndrome.
    • Two cases of Ambras syndrome .[3, 35] were associated with alterations in chromosome 8. Using fluorescence in situ hybridization (FISH), Tadin et al analyzed the original patient described by Baumeister and detected a pericentric inversion of chromosome 8, inv(8)(p11.2q22).[36]
    • In an analysis of findings in the second patient reported by Balducci, an association was made with an insertion of the q23-24 region into a more proximal region of the long arm of chromosome 8, most likely at the q13 band, as well as a complex deletion in 8q23 encompassing four separate chromosomal breakpoints.[35]
    • The inversion breakpoints in this latter patient have been cloned, and a detailed map of the inversion breakpoint interval has been generated .[37]
    • Some postulated that the common breakpoint in both patients at 8q22 suggests that this region of chromosome 8 contains a gene involved in regulation of hair growth.
    • Although the relationship of these genetic observations to the pathogenesis of hypertrichosis remains uncertain, it has been postulated that the common breakpoint in both patients with Ambras syndrome at 8q22 suggests that this region of chromosome 8 contains a gene involved in regulation of hair growth.
Previous
Proceed to Differential Diagnoses
 
 
Contributor Information and Disclosures
Author

Sarah K Taylor, MD  Staff Physician, Kimbrough Dermatology, Ft George G Meade

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.

Specialty Editor Board

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.

Michael J Wells, MD  Associate Professor, Department of Dermatology, Texas Tech University Health Sciences Center, Paul L Foster School of Medicine

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.

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, and American College of Rheumatology

Disclosure: Amgen Honoraria Consulting; Celgene Honoraria Safety Monitoring Committee

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

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 and Society for Investigative Dermatology

Disclosure: Elsevier Royalty Other

Additional Contributors

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.

References

  1. Brandt A. Uber die sogenannten Hundemenschen, beziehungsweise uber Hypertrichosis universalis. Biol Zbl. 1897;17:161-79.

  2. Felgenhauer WR. [Hypertrichosis languinosa universalis]. J Genet Hum. May 1969;17(1):1-44. [Medline].

  3. 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. Sep 1993;44(3):121-8. [Medline].

  4. De Raeve L, Keymolen K. Congenital hypertrichosis lanuginosa in a father and son. Arch Dermatol. Jun 2011;147(6):746-7. [Medline].

  5. Gupta LK, Khare AK, Mittal A, Garg A. Congenital hypertrichosis lanuginosa. Indian J Dermatol Venereol Leprol. Nov-Dec 2010;76(6):699-700. [Medline].

  6. Beighton P. Congenital hypertrichosis lanuginosa. Arch Dermatol. Jun 1970;101(6):669-72. [Medline]. [Full Text].

  7. BROSTER LR. Hypertrichosis: a report of three cases. Br Med J. May 20 1950;1(4663):1171-4. [Medline]. [Full Text].

  8. Cantu JM, Garcia-Cruz D, Sanchez-Corona J, Hernandez A, Nazara Z. A distinct osteochondrodysplasia with hypertrichosis- Individualization of a probable autosomal recessive entity. Hum Genet. 1982;60(1):36-41. [Medline].

  9. Demikova NS, Blinnikova OE, Udler EE. [A case of congenital generalized hypertrichosis]. Klin Med (Mosk). Mar 1986;64(3):125-6. [Medline].

  10. Freire-Maia N, Felizali J, de Figueiredo AC, Opitz JM, Parreira M, Maia NA. Hypertrichosis lanuginosa in a mother and son. Clin Genet. Nov 1976;10(5):303-6. [Medline].

  11. Gardner AL. A case of hypertrichosis universalis. East Afr Med J. Jul 1964;41:345-6. [Medline].

  12. Jalili IK. Cone-rod congenital amaurosis associated with congenital hypertrichosis: an autosomal recessive condition. J Med Genet. Aug 1989;26(8):504-10. [Medline]. [Full Text].

  13. Janssen TAE, De Lange C. Familial congenital hypertrichosis totalis (trichostasis). Acta Paediatr. 1945;33:69-78.

  14. Joest HR. Haarmenschen Ram-a-Samy. Z f Ethnologie. 1984;26:433-5.

  15. Judge MR, Khaw PT, Rice NS, Christopher A, Holmstrom G, Harper JI. Congenital hypertrichosis lanuginosa and congenital glaucoma. Br J Dermatol. May 1991;124(5):495-7. [Medline].

  16. Kint AH, Vermander FR, Decroix JM. [Congenital hypertrichosis lanuginosa]. Hautarzt. Jul 1985;36(7):423-4. [Medline].

  17. Li ZH, Tong ZH, Luo GY, Cai HM. Congenital hypertrichosis universalis associated with gingival hyperplasia and macromastia. Chin Med J (Engl). Nov 1986;99(11):916-7. [Medline].

  18. McKusick VA. Mendelian Inheritance in Man: Catalogs of autosomal dominant, autosomal recessive and X-linked phenotypes. 10th ed. Baltimore: John Hopkins University Press; 1992.

  19. Nowakowski TK, Scholz A. [The fate of people with hypertrichosis throughout history]. Hautarzt. Nov 1977;28(11):593-9. [Medline].

  20. Partridge JW. Congenital hypertrichosis lanuginosa: neonatal shaving. Arch Dis Child. Jun 1987;62(6):623-5. [Medline].

  21. Suskind R, Esterly NB. Congenital hypertrichosis universalis. Birth Defects Orig Artic Ser. Jun 1971;7(8):103-6. [Medline].

  22. Vashi RA, Mancini AJ, Paller AS. Primary generalized and localized hypertrichosis in children. Arch Dermatol. Jul 2001;137(7):877-84. [Medline].

  23. Chanukvadze D, Kristesashvili J. Effectiveness of different diagnostic methods for assessment of hyperandrogenism in young women with hirsutism. Georgian Med News. Nov 2011;25-9. [Medline].

  24. Hizli D, Kösüs A, Kösüs N, Kamalak Z, Ak D, Turhan NO. The impact of birth weight and maternal history on acne, hirsutism, and menstrual disorder symptoms in Turkish adolescent girls. Endocrine. Dec 16 2011;[Medline].

  25. Escobar-Morreale HF, Carmina E, Dewailly D, Gambineri A, Kelestimur F, Moghetti P, et al. Epidemiology, diagnosis and management of hirsutism: a consensus statement by the Androgen Excess and Polycystic Ovary Syndrome Society. Hum Reprod Update. Nov 6 2011;[Medline].

  26. Danforth CH. Studies on hair with special reference to hypertrichosis. Arch Dermatol Syphilol. 1925;12:380-401.

  27. Rook A, Ebling FJG, Champion RH, Burton JL, eds. Textbook of Dermatology. Vol 3. 4th ed. Oxford and Edinburgh: Blackwell Scientific Publications; 1986.

  28. von Luschan F. Ein Haarmensch. Zeitschrift fur Ethnologie. 1907;39:425-9.

  29. Torbus O, Sliwa F. [Ambras syndrome--a form of generalised congenital hypertrichosis]. Pol Merkur Lekarski. Mar 2002;12(69):238-40. [Medline].

  30. Baumeister FA, Schwarz HP, Stengel-Rutkowski S. Childhood hypertrichosis: diagnosis and management. Arch Dis Child. May 1995;72(5):457-9. [Medline].

  31. Franklin DL, Roberts GJ. Delayed tooth eruption in congenital hypertrichosis lanuginosa. Pediatr Dent. May-Jun 1998;20(3):192-4. [Medline].

  32. Larregue M, Vabre P, Cavaroc Y, Duriez P, Matard B. [Diffuse hamartoma of the arrector muscles and congenital hypertrichosis lanuginosa]. Ann Dermatol Venereol. 1991;118(11):796-8. [Medline].

  33. Verloes A, Massin M, Fransolet AC, Misson JP. Hypertrichosis, Fallot tetralogy, growth and developmental delay. Clin Dysmorphol. Oct 2004;13(4):247-50. [Medline].

  34. Mendiratta V, Harjai B, Gupta T. Hypertrichosis lanuginosa congenita. Pediatr Dermatol. Jul-Aug 2008;25(4):483-4. [Medline]. [Full Text].

  35. Balducci R, Toscano V, Tedeschi B, et al. A new case of Ambras syndrome associated with a paracentric inversion (8) (q12; q22). Clin Genet. Jun 1998;53(6):466-8. [Medline].

  36. Tadin M, Braverman E, Cianfarani S, et al. Complex cytogenetic rearrangement of chromosome 8q in a case of Ambras syndrome. Am J Med Genet. Jul 22 2001;102(1):100-4. [Medline].

  37. Tadin-Strapps M, Warburton D, Baumeister FA, et al. Cloning of the breakpoints of a de novo inversion of chromosome 8, inv (8)(p11.2q23.1) in a patient with Ambras syndrome. Cytogenet Genome Res. 2004;107(1-2):68-76. [Medline].

  38. Stengel-Rutkowski S, Murken JD, Pilar V, et al. New chromosomal dysmorphic syndromes. 3. Partial trisomy 3q. Eur J Pediatr. Feb 8 1979;130(2):111-25. [Medline].

  39. Martinez Santana S, Perez Alvarez F, Frias JL, Martinez-Frias ML. Hypertrichosis, atrophic skin, ectropion, and macrostomia (Barber-Say syndrome): report of a new case. Am J Med Genet. Aug 1 1993;47(1):20-3. [Medline].

  40. Belengeanu V, Rozsnyai K, Gug C, Banateanu M, Farcas S, Belengeanu A. Ambras syndrome: report on two affected siblings with no prior family history. Clin Dysmorphol. Oct 2004;13(4):265-7. [Medline].

  41. Baumeister FA, Stengel-Rutkowski S. Differentiation of congenital hypertrichosis from Ambras syndrome. Clin Genet. Dec 1994;46(6):441. [Medline].

  42. Bondeson J, Miles AE. Julia Pastrana, the nondescript: an example of congenital, generalized hypertrichosis terminalis with gingival hyperplasia. Am J Med Genet. Aug 15 1993;47(2):198-212. [Medline].

  43. Bondeson J, Miles AE. The hairy family of Burma: a four generation pedigree of congenital hypertrichosis lanuginosa. J R Soc Med. Jul 1996;89(7):403-8. [Medline].

  44. Fred FF. Differential diagnosis of excess hair in women. In: Ferri's Clinical Advisor: Instant Diagnosis and Treatment. St Louis: Mosby; 2001:892.

  45. Littler CM. Laser hair removal in a patient with hypertrichosis lanuginosa congenita. Dermatol Surg. Aug 1997;23(8):705-7. [Medline].

  46. Rashid M Rashid, Lucile E. White. A hairy development in hypertrichosis: a brief review of Ambras syndrome. Dermatology Online Journal [serial online]. 2007;13 (3):8. Available at http://dermatology.cdlib.org/133/reviews/ambras/rashid.html.

  47. Sigalas J, Tabakis T, Skordala M, Nouri M. Congenital Hypertrichosis Universalis. Pediatrica Chronica. 1990;17:181-5.

 
Previous
Next
 
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.
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2012 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.

DISCLAIMER: The content of this Website is not influenced by sponsors. The site is designed primarily for use by qualified physicians and other medical professionals. The information contained herein should NOT be used as a substitute for the advice of an appropriately qualified and licensed physician or other health care provider. The information provided here is for educational and informational purposes only. In no way should it be considered as offering medical advice. Please check with a physician if you suspect you are ill.