XVII Annual Conference of IAP Maharashtra State (Mahapedicon 2006, Solapur, 3-5th November 2006)

Dr. Atul A. Kulkarni, M.D. (Paed), Dr. Ashish R. Ajmere, Registrar
Department of Paediatrics Ashwini Sahakari Rugunalya & Research Centre, Solapur

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Case History: This 2nd female newborn born to consanguineous parents, of 30 weeks gestation by spontaneous vaginal delivery to a 25 years old 2nd gravida mother. 1st baby died. USG at 30 weeks revealed intrauterine growth retardation. Newborn and Apgar score 2 at 1 min, 3 at 10 min, required active resuscitation, while intubation on extending the neck skin torn off. The baby had characteristic facies with small nose, open mouth and micrognathia. The ears were deep set dysplastic, birth weight 1.45 g, head circum 27.5 cm crown heel length 26 cm and skin of entire body was shiny, taught with prominent veins on the trunk. Mouth was small and locked in open position, cheeks were prominent, absent eye lashes, skin fissured at flexures and ulcers seen at pressure sites, gingers fixed at partial flexion. Hands and feet were edematous. Ankylosis observed at various joints, lateral end of clavicle hypoplastic. Hepatomegaly present, AF wide open. It is a rare disorder with poor prognosis.

Restrictive Dermopathy: A lethal geno dermatosis with congenital contractures, hyperkeratosis and facial dysmorphism.

1. Main Signs: Premature, LBW, microcephaly, hydroamnios, large placenta, short umbilical cord. Variable skin sign from birth, hard shell like structure, thin translucent skin with prominent vessels and erythema. Generalized contractures of knee, elbow, wrist and ankle joints in the flexed position “Rocker bottom feet”.
   
2. Facial Dysmorphism:hypertelorism, ectropion, absent eyelashes, small nose, deep set dysplastic ears, micrognathia, microstomia, open mouth Anterior Fontanelle wide open.
   
3. Organic involvement: Hypoplasia of the lungs, pseudohypertrophy of the breasts hepatosplenomegaly.
   
4. Supplementary Findings: Teeth present at birth, Choanal atresia, submucous cleft palate, kyphoscoliosis, patient ductus arteriosus, ventricular septal defect, hypoplastic clavicles, and long bones.
   
5. Histology: Thickening of the epidermis, hyperkeratosis of the stratum corneum. Hypoplasia of the sebaceous and sweat glands. Thin skin, hypoplasia of the elastic fibres. Abnormal subcutaneous fat.
   
6. Manifestations: Prenatally and at birth.
   
7. Aetiology: Autosomal recessive disorder.
   
8. Pathogenesis: Unknown.
   
9. Frequency: Reported cases upto 2006 is 31 newborns.
   
10. Course prognosis: Death within few days or weeks or at birth.
    
11. D.D.: Stiff skin syndrome, foetal akinesia aplasia cutis congenital.