Hallermann Streiff syndrome:A case report
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2008年11月11日 16:02:51 Tuesday
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作者：Padmavathy.L1,Lakshmana Rao.L2,Ethirajan.N1,Manavalan.S3,Adaikappan.M4,Megala.R5,Sujatha5 作者单位：Urban Health Center,Division of Community Medicine1,Patholgy2,Ophthalmology3,Radiology4,Rajah Muthiah Medical College,Rajah uthiah Dental College5,Annamalai University,Annamalai Nagar,Chidambaram-608002,Tamil Nadu
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【关键词】 syndrome
Correspondence to Dr.L.Padmavathy,B3,RSA Complex,Annamalai University,Annamalai Nagar-608002,Tamil Nadu
E-mail: drellellar@yahoo.com
INTRODUCTION
Circumscribed non-cicatricial alopecia of congenital origin is very uncommon and is the result of hypoplasia or aplasia of a group of hair follicles.Hallermann-Streiff syndrome(HSS),also called oculomandibular dyscephaly is a rare condition with skeletal,cutaneous and neurological abnormalities［1］.The features are bird-like facies with hypoplastic mandible and beaked nose,proportionate dwarfism,hypotrichosis,microphthalmia,and congenital cataracts.Other synonyms of this syndrome are:
· Francois dyscephaly syndrome
· Hallermann-Streiff-Francois syndrome
· Oculomandibulodyscephaly with hypotrichosis
· Oculomandibulofacial Syndrome
· Audry's syndrome I
· Hallermann's syndrome
· Francois' syndrome
· Hallermann-Streiff syndrome
· Ullrich and Fremerey-Dohna syndrome
· Fremerey-Dohna syndrome
· Francois syndrome Ⅱ
CASE REPORT
An 11-year-old girl,2nd child,born of a consanguineous marriage,presented with a well defined area of absence of hair on scalp since birth.There was no history of vesiculation,bulla,ulceration or scar on the scalp at birth.She was studying in 7th standard,corresponding to her age.No neurological abnormality was present.She was blind in the left eye since birth with a congenital cataract.She was operated for cataract in the right eye four years ago,but vision was not restored.Ophthalmologic examination revealed corneal opacity and vascularization in the right eye and a cataract in left eye(Figure 1).Her vision in both eyes was still impaired.There was bilateral nystagmus.By ‘B’ scan ultrasonography,the posterior segment i.e.,the vitreous,retina and choroid appeared to be within normal limits in both eyes.Cutaneous examination revealed a well demarcated area of alopecia,3 cm in diameter over occipital region(Figure 2).The skin on the lesion did not reveal any induration or scarring.Dental examination revealed a high arched palate and caries in Tooth No.s:6 5,3 6,4 6.Root stump was present in 71.There were no stains,though calculus was present.There was malocclusion and dental hygiene was poor.Radiological examination of the teeth did not reveal any developmental abnormality ( Figure 3).
Hematological and biochemical investigations were within
Histopathological examination of the skin from the lesion revealed normal epidermis and hypoplastic hair follicles,vellus hair and an occasional terminal hair.No evidence of any scarring was seen.(Figure 4 and 5).
In view of the presence of bilateral congenital cataracts,congenital circumscribed alopecia,nystagmus and brachycephaly,a diagnosis of HSS was entertained.
DISCUSSION
Hallermann (1948) reported the combination of congenital cataracts and a “bird head” in a male aged 25 years［2］.Two years later Streiff (1950) reported a similar condition in a woman aged 31 years［3］.Franois (1958) reviewed the literature,and described the phenotypic range in detail.Thereafter the condition was generally known by the double or triple eponym as Hallermann-Streiff syndrome or Hallermann-Streiff-Francois syndrome［4］.
HSS is a syndrome of multiple congenital abnormalities comprising an abnormally shaped skull,proportionate dwarfism,birdlike facies with beaked nose and hypoplastic mandible,atrophy of the skin,dental anomalies,hypotrichosis,bilateral microphtalmia,mental retardation and congenital cataracts.Brachycephaly,frontal bossing,open lambdoidal and longitudinal sutures,and delayed closure of fontanelles are usually associated.Often there are additional ocular features and skeletal abnormalities［1］.However,in our patient,except for congenital cataracts,hypotrichosis and brachycephaly,there were no other abnormalities.Congenital cataracts occur in a majority of cases as in our patient and glaucoma in less than 10% of patients.The eyes are often small,may have colobomas and the sclera can be bluish in 25% of cases［5］.
Circumscribed congenital non-cicatricial alopecia is very uncommon and is the result of hypoplasia or aplasia of a group of follicles.The scalp is clinically normal and HPE shows no change except for a decrease in the number of follicles.Any follicles present are usually small and vellus rather than terminal type［6］.Several clinical forms of circumscribed congenital alopecia occur like vertical type,triangular alopecia of Sabouraud and sutural alopecia［7~10］.In sutural alopecia,which is a component of HSS,multiple patches overlie the cranial sutures.However in our patient there was a single patch.
HSS affects both sexes equally and the etiology is unknown.Francois (1982) quoted data indicating a normal sex ratio (42 males,46 females) and a high frequency of parental consanguinity［4］ as was in our patient too.Most cases described have been sporadic with no chromosome abnormalities detected,but possibly of autosomal recessive inheritance.In view of the negative family history,but parental consanguinity,our case could be presumed to be either of sporadic occurrence or due to autosomal recessive inheritance.
Dental abnormalities like hypoplastic mandible,absence of teeth or persistence of decidual teeth and many other changes are reported in about 80~85% of patients.However,this patient had no developmental anomalies,except,a high arched palate malocclusion and carious teeth.
HSS should be differentiated from alopecia areata and acquired cicatricial alopecia.Absence of scarring,and history of the presence of the lesion from birth ruled out aplasia cutis congenita and alopecia areata respectively.Most common forms of nevoid epidermal naevi are usually devoid of hair and present as warty or smooth but slightly indurated plaques.A zone of non-cicatricial alopecia can develop around melanocytic nevi.However histopathology was not in favor of this condition in our patient.
The association with bilateral congenital cataract,circumscribed congenital alopecia and brachycephaly point to HSS.
The patient was referred for occupational therapy and vocational training for the visually impaired.Ophthalmologists were consulted for further management of the eye condition.
The patch of alopecia was well camouflaged;hence no further management was advised.
【参考文献】
1. Isabelle Russell Eggitt.Cataract in infancy and childhood;etiology,treatment and correction.In:David LE,Sparrow JM.Oxford text book of ophthalmology,1st ed.New York:Oxford Med publishers,1999:1047.
2. Lebwohl M G.The skin and systemic disease - A color atlas and text,2nd ed.London:Elsevier,2004:135.
3. Ebling FJ,Rook.A: Hair:In:Rook.A.,Wilkinson.D.S.,Ebling.F.J.G.Text book of dermatology,3rd ed.New Delhi:CBS Publishers,1986:1770-1771.
4. W.Hallermann.Vogelgesicht und Cataracta congenita.Klinische Monatsbl?tter für Augenheilkunde,Stuttgart,1948,113:315-318.
5. E.B.Streiff.Dysmorphie mandibulo-faciale (tête d'oiseau) et alterations oculaires.Ophthalmologica,Basel,1950,120:79-83.
6. Francois J.Francois' dyscephalic syndrome.Birth Defects.Orig.Art.Ser,1982,18 (6):595-619.
7. Canizares O.Alopecia triangulares congenita.Arch Dermatol syphilol,1941,44:1106-1109.
8. Fuerman EJ.Congenital triangular alopecia.Cutis,1981,28:196-197.
9. Kubba R,Rook A.Congenital triangular alopecia.Br J Dermatol,1976,95:657.
10. Tosti A.Congenital triangular alopecia.J Am Acad Dermatol,1987,16:991-993.
(Editor Alice)
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