STUDY Primary Generalized and Localized Hypertrichosis in Children Roopal A. Vashi, MD; Anthony J. Mancini, MD; Amy S. Paller, MD Objective: To review the causes, presentation, and sets of hypertrichosis cubiti, anterior cervical hypertri- therapy of primary generalized and localized symmetri- chosis, posterior cervical hypertrichosis, and faun tail cal hypertrichosis in children. deformity. All patients with generalized hypertrichosis manifested the condition at birth; the age of onset in chil- Design: Retrospective medical record review. dren with localized symmetrical primary hypertrichosis ranged from birth to 4 years. One girl with generalized Setting: Academic specialty referral clinic for pediatric hypertrichosis had gingival hyperplasia and the girl with dermatological disorders. faun tail deformity had bony diastematomyelia with spina bifida occulta. The medical histories and physical ex- Patients: Case series of 11 prepubertal male and fe- amination findings of all of the children were otherwise male patients who had idiopathic hypertrichosis be- unremarkable. All patients were referred for diagnostic tween July 1, 1990, and November 30, 1999. and therapeutic considerations. Interventions: None. Conclusions: Primary hypertrichotic conditions, whether localized or generalized, are rare in pediatric patients and Main Outcome Measures: Clinical distribution of in- of unknown origin. Although otherwise benign, these dis- creased hair growth and types of hair removal methods orders may result in cosmetic disfigurement and psy- used. chosocial trauma for patients and families. Patients and their families should be adequately advised of the avail- Results: Seven girls and 4 boys, ranging in age from 4 able treatment methods for both temporary and perma- months to 11 years, were evaluated. Four patients showed nent hair removal. generalized hypertrichosis. The other 7 patients had lo- calized symmetrical hypertrichosis, representing the sub- Arch Dermatol. 2001;137:877-884 YPERTRICHOSIS IS a condi- Primary localized symmetrical areas of hy- tion of excessive hair pertrichosis may occur as hypertrichosis growth that must be dis- cubiti (elbows), anterior cervical hyper- tinguished from hirsut- trichosis, posterior cervical hypertricho- ism, which is character- sis, or faun tail deformity. We evaluated Hized by an androgen-dependent hair the presentation and course of pediatric pattern with excessive body and facial ter- patients with primary symmetrical hyper- minal hair distributed in a male pattern.1 trichosis referred to a specialty dermatol- Hypertrichosis in prepubertal children, un- ogy clinic during a 9-year period and re- like hirsutism, is not associated with an viewed representative examples of these underlying endocrine disorder and is most unusual hair disorders. commonly an adverse effect of drug ad- ministration. Primary hypertrichosis has REPORT OF CASES been classified based on the age of onset (congenital or acquired) and the extent of CASE 1 From the Division of distribution (localized or generalized Dermatology, Children’s 2,3 Memorial Hospital (Dr Paller) forms). A 6-year-old girl was born with long, and the Departments of In its generalized form, hypertricho- coarse, dark brown hair on her forehead, Pediatrics and Dermatology, sis may be an isolated finding, as in hy- with the appearance within months of in- Northwestern University pertrichosis lanuginosa congenita, or as- creased hair on the cheeks, sideburn ar- Medical School, Chicago, Ill. sociated with gingival hypertrophy. eas, chin, chest, abdomen, back, arms, and (REPRINTED) ARCH DERMATOL / VOL 137, JULY 2001 WWW.ARCHDERMATOL.COM 877 ©2001 American Medical Association. All rights reserved. Downloaded From: https://jamanetwork.com/ on 09/30/2021 growth, but was very painful, costly, and only limited ar- eas could be treated at each session. The patient also had SUBJECTS, MATERIALS, AND 8 dental restorations and 2 extractions to preserve her METHODS teeth and dental function. Tonsillectomy and adenoid- ectomy was performed at age 4 years for obstructive sleep apnea. The patient continues to be markedly distressed A retrospective medical record review was per- about her cosmetic problem and refuses to participate in formed of children examined for excessive hair growth activities that expose her, such as swimming. during a 9-year period from July 1, 1990, through November 30, 1999, at the Division of Dermatol- ogy, Children’s Memorial Hospital, a tertiary care cen- CASE 2 ter serving the Chicago metropolitan area of approxi- mately 3 million people. Eleven patients with primary A 7-year-old girl had excessive, fine, long vellus blonde generalized or symmetrical localized hypertrichosis hairs on the back, shoulders, arms, legs, and sacrum. were identified; all had medical records and photo- The increased hair was first noted shortly after birth graphs available for review. Through telephone and and had been progressively increasing in density. The at least 1 clinic-based interview, the following data patient was upset because her classmates teased her and were collected: sex, age, race, medical history, drug called her “werewolf.” There was no reported family history, distribution of increased hair growth, pa- history of excessive hair growth. No associated abnor- tient’s age of onset of excess hair growth, change in pattern of hair growth, family history of increased hair malities were found on physical examination, leading to growth, and treatments attempted. Patients with asym- the diagnosis of hypertrichosis lanuginosa congenita. metrical increased hair growth, with or without an The patient tried shaving and chemical depilatories, but underlying lesion (eg, nevoid hypertrichosis, con- was discouraged about the transient effect. Her parents genital nevi, or smooth muscle hamartoma), and pa- agreed that electrolysis be considered but only when tients in whom hirsutism had been diagnosed based the patient was old enough to tolerate the potential dis- on clinical pattern and endocrine studies were ex- comfort of this procedure. cluded from this review. At follow-up, the patient was 17 years old. The hy- pertrichosis has persisted and remained the same in den- sity and thickness. The patient was still battling with cos- metic and psychological issues related to the excessive legs. The underlying skin was normal with no associ- hair growth. She had tried electrolysis, which decreased ated pigmentary abnormalities. The patient’s maternal the excessive hair density but was both painful and ex- great-uncle also reportedly had generalized hypertricho- pensive. The patient’s family was unable to continue sis. Although originally seen at Children’s Memorial Hos- therapy after their insurance company denied payment, pital at 10 months of age and diagnosed with general- and they could not afford epilative laser therapy. The pa- ized hypertrichosis, the patient was first noted to have tient uses selective application of chemical depilatory gingival fibromatosis between 12 and 18 months of age, agents that cause skin irritation and must be repeated suggesting the diagnosis of gingival fibromatosis and weekly. hypertrichosis. Examination showed generalized hypertrichosis with RESULTS rough, dark hair, coarse facies with large ears, ante- verted nostrils, micrognathia, hypoplastic midface, gin- Seven girls and 4 boys with hypertrichosis were evalu- gival hypertrophy with dystrophic teeth, pectus excava- ated during the study period (Table 1). Four of the tum, and a protuberant abdomen without organomegaly. children had generalized hypertrichosis; the onset in all The patient had a history of obstructive sleep apnea and of these patients was at birth. Three of the 4 patients had delayed motor skills. Despite the early diagnosis, the no associated medical problems and were diagnosed as patient’s parents sought the opinions of several special- having hypertrichosis lanuginosa congenita (Medelian ists, which led to extensive endocrinologic testing. The Inheritance of Man [MIM] classification: 145700, complete blood cell count, electrolyte levels, urinalysis, 307150). Two of these patients had blonde hair; 1 had thyroid study results, luteinizing hormone level, follicular- brown hair. The hair was soft and silky in all 3 patients. stimulating hormone level, 5-a reductase concentra- The fourth patient with generalized hypertrichosis had tion, free testosterone level, total testosterone level, dark brown hair that was coarser than that of the other 3 dihydrotestosterone level, and sex hormone–binding patients with hypertrichosis lanuginosa congenita globulin level were normal. Chromosome analysis showed (Figure 1). In addition, she had associated gingival a 46,XX genotype. hyperplasia (Figure 2), with onset between age 12 and The patient suffered enormous emotional distress 18 months, and developmental delay, suggesting the from the increased hair growth, especially on her face. diagnosis of gingival fibromatosis and hypertrichosis She reported being teased at school and stared at in pub- (MIM: 135400). Of these 4 children, only the girl with lic. Bleaching agents caused minimal improvement in ap- gingival fibromatosis had an affected family member. pearance. A trial of depilatory agents resulted in the re- Her maternal great-uncle reportedly had generalized turn of long, thick, dark brown hairs within 1 week. A hypertrichosis, but the family was unaware of associated trial of epilative intense pulsed light laser therapy on the gingival hyperplasia. The patient’s