Progeria (Hutchison - Gilford syndrome) in siblings: In an autosomal recessive pattern of inheritance

Tanjore Y Raghu, Golla A Venkatesulu, Garehathy R Kantharaj, Tamraparni Suresh, V Veeresh, Yenigi Hanumanthappa

 Department of Skin and Sexually Transmitted Diseases, Viydyanagar Institute of Medical Sciences, (Government Medical College), Bellary- 583 104, Karnataka, India

Correspondence Address:
Tanjore Y Raghu
Department of Skin and Sexually Transmitted Diseases, Viydyanagar Institute of Medical Sciences, (Government Medical College), Bellary- 583 104, Karnataka
India

X-ray of pelvis showing obliteration of femoral angle (Coxa valga) in the elder sibling.

X-ray of pelvis showing obliteration of femoral angle (Coxa valga) in the elder sibling.

Chest X-ray showing absence of lateral one third of the clavicle and over crowding of proximal ribs in elder siblings.

Chest X-ray showing absence of lateral one third of the clavicle and over crowding of proximal ribs in elder siblings.

Introduction

Progeria (Hutchison - Gilford syndrome) is a rare disorder of unknown aetiology characterized by premature aging, involving the skin, bones, heart and blood vessels. Pangeria (Werner′s syndrome), dermatomyositis, acrogeria, Cockane′s syndrome and Rothmund - Thomson′s syndrome are to be considered as differential diagnoses.

Case Report

Six and three year old female siblings born to a consanguineously married parents, presented with sclerodermatous changes over the extremities, prominent knee joints and mottled pigmentation over the trunk. Alopecia, sparse eye brows and eye lashes, beaked nose, micrognathia, prominent veins, bird - like facies [Figure - 1], retarded growth and high pitched voice were observed. Elder sibling had keloids over the right forearm, difficulty in changing the posture, dystrophic nails and clawing of fingers. Genitals were normal and there was no lymphadenopathy.

Complete haemogram, erythrocyte sedimentation rate, routine urine investigations, liver and renal function tests, blood sugar levels and electrocardiogram studies were within normal limits.

Radiological examination in the elder sibling revealed widening of the fontanalle, diastases of sutures, hypoplasia of maxillary and mandibular sinuses, obtuse mandibular angle with over crowding of teeth. Chest X-ray revealed absence of lateral one third of the clavicle and over crowding of proximal ribs [Figure - 2]. X-ray of hip joints revealed coxa valga [Figure - 3]. wherein, neck shaft angle of the femur was more than the normal of about 125 degrees.

Radiological examination of the skull in younger sibling showed widening of fontanalle, diastases of sutures and hypoplasia of maxillary sinus. Chest X-ray showed features of pyriform thorax with over crowding of proximal ribs.

The 6 - year - old elder girl had a height of 94 centimeters, which was comparable to 3 - year - old normal child and the weight of 9.5 kilograms comparable to one year - old normal child. Ophthalmic examination did not reveal any abnormalities.

Discussion

Early age of onset, normal eyes and genitalia excluded pangeria. in our patients. Absence of helio-trope oedema, Gottron′s papules and Gottron′s sign with characteristic bird-like facies ruled out dermato-myositis. Typical hair and face involvement excluded acrogeria. Cockayne′s syndrome manifests in second decade of life with photosensitivity, cataract and "Micky - Mouse" appearance with protruding ears and disproportionate extremities. Rothmund - Thomson syndrome appears between three and six months of age with photosensitivity, cataract and poikiloderma. Age of onset, characteristic skin and skeletal involvement with radiological feaures suggested progeria in the siblings.

Skin manifestations are earlier to appear followed by skeletal and cardiovascular system. However in our case cardiovascular system was normal. Long term follow-up is needed to observe the cardiovascular abnormalities in our case as the eldest sibling was only six years old. Skin and skeletal involvement without any cardiovascular abnormalities has been reported by Fleishmajer.[1] Elder sibling had keloids over the right elbow. Association of keloids in progeria is rare and has been documented earlier by Jimbow et al.[2]

Less than hundred cases of progeria have been reported in the literature.[3] Mode of transmission of progeria is usually from sporadic autosomal dominant mutation.[4] Clinically healthy parents, history of consanguineous marriage with affected siblings in the family favour autosomal recessive pattern of inheritance in our case. To the best of our knowledge only two reports[5],[6] of progeria in siblings with an autosomal recessive pattern of inheritance have been documented. The present case is being reported for the rarity of progeria in siblings with a possible autosomal recessive pattern of inheritance. Presence of keloids in one of the siblings of progeria was an additional interesting association observed.

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