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R. Monga, G. Sinha. Manor Hospital, Walsall, West Midlands WS2 9PS

Hydrops is not uncommon in neonates and can be diagnosed antenatally. However, oedema (whether pitting or non-pitting) affecting one limb is quite rare and may not be detected antenatally. It may pose a diagnostic dilemma for the clinicians and distress to the family.

We report a male baby born to Caucasian mother at term by emergency caesarean section for failure to progress. The birth weight was 4.090 kg and Apgar score was 81, 95. The mother had no medical illness and there was no family history of lymphoedema. The pregnancy was essentially normal. Unfortunately, on examination the baby was noted to have pitting oedema of right lower limb extending from knee to the foot. He was not anaemic, had no ascites or oedema of any other part, and was not in cardiac failure. The following investigations were normal: FBC, urea, electrolytes, liver function tests, karyotype, clotting, urinary proteins, x ray of limbs, x ray of chest, ultrasound of the abdomen, and Doppler studies of femoral vessels. We concluded the diagnosis of primary congenital lymphoedema. Fortunately, at 6 months of age the oedema has considerably improved and is now confined to the right foot only.

Primary congenital lymphoedema (hereditary lymphoedema type 1, Milroy’s disease) mostly affects the dorsal aspects of both feet. It can resolve or may be a life long condition. It can cause discomfort and warmness of the affected area. It is an autosomal dominant condition with incomplete penetrance due to a mutation in the gene locus encoding for VEGFR3 with resultant dysgenesis of microlymphatic vessels. Mapping of this condition to 5Q.35.3 region has been established in some families. This condition is rare, antenatal and postnatal diagnosis can be difficult and needs exclusion of other diagnoses. The family needs to be reassured and very rarely requires surgical intervention.


S. Upadhyayula, N. J. Levell, C. Moss, C. J. Upton. Neonatal intensive care unit, Norfolk and Norwich University Hospital

A 22 h old baby had generalised erythema, blistering, and erosions of his skin. He was the first child for this couple and was born after an uneventful pregnancy. A differential diagnosis of staphylococcal scalded skin syndrome (SSSS), epidermolysis bullosa, and bullous ichthyosiform erythroderma were considered. He was started on antibiotic therapy and supportive care pending laboratory results.

The child’s father apparently presented with a similar skin condition as a baby, later diagnosed as bullous ichthyosiform erythroderma (BIE). BIE is a rare disorder of keratinisation, which presents neonatally with blistering followed by hyperkeratosis. Inheritance is autosomal dominant but some cases occur sporadically as new mutations. It is part of the larger spectrum of conditions called epidermolytic hyperkeratosis after the characteristic histological changes of acanthosis, hyperkeratosis, tonofilament clumping, and epidermal blistering. BIE is due to epidermal fragility caused by mutations in keratin genes K1 and K10, differentiation specific keratins expressed in the suprabasal cells of the epidermis. We subsequently found that the father, who has classical BIE, has a mutation in K10 gene.

BIE is an uncommon differential for neonatal skin blistering compared with SSSS or epidermolysis bullosa. We report this case in view of its rarity and the potential for misdiagnosis as SSSS in the absence of family history of BIE. Paediatricians may not recognise it as familial because the ichthyotic appearance in adult relatives is very different from the neonatal appearance. Correct diagnosis is essential for appropriate management of this serious disorder and for genetic counselling and follow up. In this case, knowledge of the father’s disease spared the baby from further investigations.

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