Loose anagen hair syndrome associated with macular dystrophy: a family description

Abstracts

Descreve-se uma família com síndrome dos cabelos anágenos frouxos (SCAF) associada à distrofia macular. Foram descritos os achados dermatológicos, oftalmológicos e de microscopia óptica e eletrônica de varredura de 11 indivíduos. Dois apresentaram SCAF, sem qualquer alteração ocular. Dos quatro indivíduos com alteração ocular, duas irmãs apresentaram SCAF e dispersões pigmentares em pólo posterior da retina, com coloboma da mácula. Em dois irmãos encontraram-se as mesmas características da SCAF e fundo de olho com dispersões pigmentares em pólo posterior, sem coloboma. Os achados sugerem que essa associação seja uma nova entidade nosológica dentro das displasias ectodérmicas.

degeneração retiniana; displasia ectodérmica; hipotricose

CASE REPORT

Loose anagen hair syndrome associated with macular dystrophy - A family description^*

Mário Teruo Sato^I; Fabiane Mulinari Brenner^II; Rodrigo Marzagão^III; Fábio Sabbag^IV; Gisele Bordignon^V; José Fillus Neto^VI; Daura R. Eiras-Stofella^VII; Antonio Franco^VIII; Carlos Augusto Moreira Júnior^IX

^IAssociate Professor of Ophthalmology, Federal University of Parana (UFPR). Responsible for the Neuro-Ophthalmology and Ocular Electrophysiology Sector at the Vision Center / Hospital de Clinicas - UFPR

^IIAssistant Professor of Dermatology, UFPR, fellowship in hair disorder from The Cleveland Clinic Foundation

^IIIOphthalmology Resident at the Vision Center / Hospital de Clinicas - UFPR

^IVOphthalmologist

^VAssistant Professor, Department of Biochemical-Pharmaceutics, UFPR

^VIAssistant Professor, Pathology Department, UFPR

^VIIAssociate Professor, Biology Department, UFPR

^VIIIBiochemical-Pharmacist, Pediatrics Department, UFPR

^IXPresident of UFPR; Professor of Ophthalmology, UFPR

^{Correspondence}

ABSTRACT

The article describes a family with loose anagen hair syndrome (LAHS) associated with macular dystrophy. Complete dermatological and ophthalmological exams, and hair examination under optical and electron microscopy were performed in eleven index cases. Two individuals demonstrated hair findings with LAHS without ocular problems. Within the four cases with ocular problems, two sisters presented with LAHS and pigmentary dispersion on the retina with macular coloboma. Two brothers presented with LAHS and pigmentary dispersion on the retina without macular coloboma. The findings suggest that this new association is a disorder among the ectodermal dysplasia.

Keywords: retinal degeneration; ectodermal dysplasia; hypotrichosis.

INTRODUCTION

Loose anagen hair syndrome (LAHS), described initially by Nödl,¹ is characterized by the presence of sparse hair shafts in the scalp, with abnormal growth and no need for frequent haircuts. The hair is easily plucked from the scalp, painlessly and without breakage. The changes usually appear in childhood (between two to five years of age), and affect both sexes. Most of the children present blond hair, although the disease may occur in children with brown hair.² There is autosomal dominant inheritance in most of the reports, and the essential finding is the easy plucking of anagen phase hair from the scalp.³ The characteristic findings under scanning electron microscopy (SEM) are canalicular depressions along the hair follicle and ruffled cuticle proximal to the bulb.⁴

The macular dystrophies are progressive degenerations of the retina and/or choroid without defined etiology, predominantly affecting the macular region. They are alterations above all of the posterior pole of the retina, bilateral and often symmetric frequently, with familial character, associated with decrease in visual acuity, slow progression, an early age at onset and without general physical changes or laboratorial abnormalities.⁵

CASE REPORT

Eleven individuals of a family from Paranagua, State of Parana, Brazil (Table 1) were examined. Figure 1 shows the heredogram of the highlighted individuals (dotted line) that were submitted to the following procedures: complete dermatological and ophthalmological exams, sweat test, microscopic analysis of spontaneously eliminated hair, gentle traction test, trichogram, optical microscopy (OM) and scanning electron microscopy (SEM) of the hairs.

The mother of the patients with ocular involvement and the oldest son (cases II-19 and III-20) presented characteristics of LAHS, without any ocular alteration. The patients denied any complaints of hair loss or infrequent necessity for haircuts. Their hair was short, not easily plucked by gentle traction and they presented normal body hair. The gentle traction test was positive; OM and SEM, however, showed characteristics of LAHS. In case II-19, the trichogram (Chart 1) revealed 64.6% of anagen hair and the presence of telogen bulbs and dystrophic anagen bulbs with a "mouse tail" format. SEM showed hair shafts with variations in the thickness. In case III-20, the trichogram was anagen (68.8%) with dystrophic telogen and anagen bulbs. Under SEM, the hair shafts had canalicular formations along the stem. In those patients, the trichogram and SEM were compatible with LAHS, and the ophthalmological exam was normal.

Of the four individuals with ocular alteration, two sisters (cases III-21 and III-23) presented similar ophthalmological alterations and features of LAHS. The patients presented a history of short hair in childhood without need for frequent cutting. On examination they presented short hair, mainly in the frontoparietal area and normal body hair. The terminal hairs of the scalp were easily plucked with gentle traction. The trichogram showed anagen shafts with a uniform thickness, and dystrophic telogen and anagen bulbs (Table 1). The gentle traction tests were positive with anagen hairs. In case III-21, the trichogram showed that 87.9% of the hair were anagen, and OM and SEM revealed an absence of internal and external radicular sheaths and ruffled cuticle proximal to the bulb (Figures 2a and 2b), findings compatible with LAHS. In case III-23, despite the telogen trichogram (20.9% anagen hair), the evaluation of spontaneously eliminated hair presented dystrophic anagen shafts with a "mouse tail" appearance, and SEM showed canalicular alterations and dystrophic anagen bulbs, also suggestive of LAHS. At ophthalmological exam, both cases presented macular dystrophy with pigmentary dispersion in the posterior pole and coloboma in the macular area.

In two siblings (cases III-22 and III-24) the same characteristics of LAHS were found, however the ophthalmologic findings were different from those relative to the sisters with ocular involvement. These patients presented a history of sparse hair since infancy, with irregular growth and rare haircuts. Dermatological exam showed rarefaction of the hair in the frontoparietal region (Figure 3a - case III-24), with hair easily plucked from the scalp and reduced body hair. The gentle traction tests were positive with anagen hairs. In case III-22, the trichogram showed 52.9% anagens, with irregularly sized telogen and dystrophic anagen bulbs, SEM revealed dystrophic anagen bulbs with a mouse tail aspect. In case III-24, the trichogram exhibited 64.43% of anagens, and analysis of the hair eliminated spontaneously showed dystrophic telogen and anagen bulbs with a "fishhook" appearance. SEM revealed canalicular depressions in the stems of the hair shafts (Figure 3b). Ophthalmological exam, in both cases, showed that pigmentary dispersion was present in the posterior pole of the retina, without coloboma.

The youngest child (Case III-25) was normal from both the dermatologic and ophthalmologic points of view. OM and SEM of the hair shafts did not reveal alterations and served as the control.

Cases IV 1-4 presented normal dermatological and ophthalmological exams.

DISCUSSION

No reports were found regarding an association between LAHS and macular dystrophy; part of this work with an ophthalmological focus has already been published.⁶ The present report on individuals with skin phototype V, Negroid hair, and age varying from 26 to 60 years differs considerably from previous reports, in which Caucasian individuals prevailed, with blond or brown hair and age varying from two to nine years.⁷ There were few cases among individuals with dark hazel hair⁸ or adults between the second to fourth decades of life.⁷ This report presented three female and three male individuals with LAHS. Analysis of the heredogram was compatible with autosomal recessive inheritance with partial expression in the heterozygote (see Figure 1).

The fundamental characteristic of this syndrome is that the hairs are easily plucked from the scalp, painlessly and without breakage. Diagnosis is made through the gentle traction test, when usually telogen hairs are obtained. In this entity the anagen hairs are easily plucked.^2,8,9

Most of the reported cases of LAHS presented alterations of the hairs under SEM and OM. Dystrophic anagen hairs were observed among all affected individuals of the heredogram. SEM showed longitudinal canalicular depressions in the stem of the hairs, ruffled cuticle and variations in the diameter of the stem in the cases affected.^2,3,7 In some cases of LAHS it is possible to observe dystrophic anagen hairs with a "mouse tail" or "fishhook" aspect, as in individuals II-19, III-22, III-23 and III-24.¹⁰ Usually, the shafts eliminated are all in the telogen phase, and the presence of normal or dystrophic anagen hair is suggestive of disturbs in the hair cycle. Anagen hair can be obtained by gentle traction test in normal individuals, at a percentage of 61% in children and only 2% in adults, a fact which corroborates the suggestion of LAHS in view of these findings in adults.⁹

In the trichogram (Chart 1) an anagen pattern is found, predominantly with anagen hairs (60% to 84%) and to a lesser extent telogen hairs (5% to 33%). A small amount of dystrophic anagen hairs were present in individuals II-19, III-21 and III-22. In other individuals with the phenotype of LAHS (cases III-20, III-23 and III-24) dystrophic anagen hairs were not present. The trichogram of individuals with LAHS is predominantly anagen, in general with up to 2% dystrophic anagens.⁷

Associations between LAHS and other diseases are rare. This is the first description in the literature of an association between LAHS and macular dystrophy. The only report of ocular alteration (coloboma) with LAHS was by Murphy et al.¹¹

The individuals of the study, which presented LAHS, denied chemotherapy, radiotherapy or the use of medications that affect the cellular cycle. Sweat test, teeth and nails were normal, thereby discarding the possibility of an association with ectodermic dysplasia.⁴ The differential diagnosis with alopecia areata was clinical. Telogen effluvium was discarded after the evaluation of the hair obtained by gentle traction test with a prevalence of anagens. In one of the affected individuals (III-23), despite the telogen trichogram, the presence of spontaneous elimination of anagen hair was characteristic of LAHS. The presence of anagens among the spontaneously eliminated shafts is always abnormal.¹² The course of LAHS tends to a progressive improvement with age, when the hair becomes longer, denser and more pigmented, although the elimination of anagen hair persists.^7,8

Ectodermic dysplasias are developmental disorders that usually affect the tissue of ectodermal origin (hair, teeth and nails), for which heredity has an important causal role. Freire-Maia has proposed a classification of ectodermal dysplasias,¹³ which divides them into two groups. Group A comprises dysplasias with at least two of the four signs: trichodysplasia (hair), dental defects (teeth), onychodysplasia (nails) and disturbances of the perspiration (sudoriparous glands). Diseases with just one of these four signs and associated to a sign of another structure with ectodermal origin are classified as group B, which is smaller than group A.¹⁴ Macular dystrophy associated to LAHS belongs to group B of the ectodermic dysplasias (association between hair and retina).¹⁵

REFERENCES

Received on November 27, 2002

Approved by the Consultive Council and accepted for publication on January 05, 2004

• 1. Nödl F, Zaun H, Zinn KH. Gesteigerte Epilierbarkeit von Anagenhaaren bei Kindern als Folge eines Reifungsdefekts der Follikel mit gestorter Verhaftung von Haarshaft and Wurzelscheiden. Das Phanomen der leicht ausziehbaren Haare. Aktuelle Dermatologie. 1986;12:55-7.
• 2. Li VW, Baden HP, Kvedar JC. Loose anagen syndrome and loose anagen hair. J Cutan Pathol. 1996;23(3):288-92.
• 3. Baden HP, Kvedar JC, Magro CM. Loose anagen hair as a cause of hereditary hair loss in children. Arch Dermatol. 1992;28:1349-53.
• 4. Azón-Masoliver A, Ferrando J. Loose anagen hair in hypohidrotic ectodermal dysplasia. Pediatric Dermatol. 1996;13:29-32.
• 5. Deutman AF, apud Cavender JC, Al E. Hereditary macular dystrophies. In: Tasman W, Jaeger EA, editors. Duane's Clinical ophthalmology. Philadelphia: J.B. Lippincott Company; 1990. p.1-29.
• 6. Sato MT, Marzagão R, Graff C et al. Descrição de nova distrofia macular associada à síndrome dos cabelos anágenos frouxos. Arq Bras Oftalmol. 2002;65(2):249-56.
• 7. Price VH, Gummer CL. Loose anagen syndrome. J Am Acad Dermat 1989;20:249-56.
• 8. O'donnell BP, Sperling LC, James WD. Loose anagen hair syndrome. Int J Dermatol. 1992;31:107-9.
• 9. Olsen EA, Bettencourt MS, Coté N. The presence of loose anagen hairs obtained by hair pull in the normal population. J Invest Dermatol. 1999;4:258-60.
• 10. Pereira JM. O tricograma: parte I- significado e método de realização. An Bras Dermatol. 1993;68(3):145-52.
• 11. Murphy MF, Mcginnity FG, Allen GE. New familial association between coloboma and loose anagen syndrome. Clin Genet. 1995;47:214-6.
• 12. Pereira JM. Análise dos cabelos eliminados espontaneamente. An Bras Dermatol. 1996;71(6):517-24.
• 13. Freire-Maia N. Ectodermal dysplasias. Hum Hered. 1971;21(4):309-12.
• 14. Freire-Maia N, Pinheiro M. Definitions and classifications. In: Freire-Maia N, Pinheiro M, editors. Ectodermal dysplasias: a clinical and genetic study. New York: Alan Riss; 1984. p.5-25.
• 15. Sato MT, Marzagão R, Pagnan NAB, Freire-Maia N, Moreira Júnior CA. Distrofia retiniana com onda rápida escotópica (DRORE) associada à síndrome dos cabelos anágenos frouxos (SCAF). Parte II: Genética. Arq Bras Oftalmol. 2004;67(4):621-30.

*

Work done at the Ophthalmology Service, Hospital de Clinicas, UFPR.

Publication Dates

• Publication in this collection
  30 Mar 2005
• Date of issue
  Dec 2004

History

• Accepted
  05 Jan 2004
• Received
  27 Nov 2002