Familial aplasia cutis congenita associated with mega‐cisterna magna

Aplasia cutis congenita (ACC; MIM 107600) is a congenital skin disorder that manifests as localized absence of skin. Here we report a case of familial ACC and mega‐cisterna magna. A female neonate was born with skin defects on the scalp. Brain magnetic resonance imaging demonstrated retrocerebellar space widening suggesting mega‐cisterna magna. Her father also had a skin defect on the scalp at birth, and brain computed tomography of the father showed a cystic lesion over the right occipital lobe, similar to the patient's brain imaging. Karyotype 46,XX, t(6;18)(q23.2;q11.2) was identified on G‐banded karyotype analysis of the patient and her father, after which whole exome sequencing was carried out, but this was thought to be a coincidental finding. This indicates that ACC may be associated with brain anomaly, although it is very rare.     

Aplasia cutis congenita of the scalp in an infant exposed to valproic acid in utero

We report a newborn with isolated aplasia cutis congenita of the scalp whose mother was treated with valproic acid during pregnancy. Aplasia cutis congenita has been described in infants exposed in utero to antithyroid drugs, but has not been related to other tetratogenic agents. Fetal exposure to valproic acid is known to increase the risks of spina bifida and other midline defects. Interestingly, aplasia cutis congenita of the scalp is regarded as a cutaneous marker for neural dysraphism. However, this defect of the scalp and valproic acid intake during pregnancy may be a random association and similar observations are needed to suggest causality.     

Single or double bubble: sign of trouble! Congenital pyloric atresia: report of two cases and review of literature

Congenital pyloric atresia is a very rare anomaly. It can occur as an isolated anomaly and can be associated with other conditions such as aplasia cutis congenital/epidermolysis bullosa or multiple intestinal atresias. We present two cases of congenital pyloric atresia, solitary air bubble on X-ray abdomen being pathognomonic sign of pyloric atresia. However, it might present with an intermittent double bubble sign.     

A case of midline cervical cleft

ABSTRACT  Midline cervical cleft is a rare congenital developmental anomaly of the ventral neck. Less than 100 cases have been reported in published journals to date (Ayache et al., 1997). It is usually found as congenital scar-like skin defect or cord-like contractive abnormality of the skin at the ventral neck. Unlike "median cervical cyst" or "lateral cervical cyst", midline cervical cleft usually has no anatomical association with the hyoid bone. We will present a case of midline cervical cleft without fistula but with very small protuberant tissue. The subject was operated at the age of 5 months. We will discuss the clinical aspect and surgical management of this infrequent anomaly.     

Severe calcinosis cutis in an infant

We report on an infant with severe asphyxia and persistent pulmonary hypertension as a newborn. The baby received prolonged intravenous calcium gluconate therapy for hypocalcemia. At 5 weeks of age, multiple firm, indurated areas (armor-like lesions) were palpable in the subcutaneous tissues of the trunk, arms, legs, and face, particularly in skin folds. Roentgenographic study showed generalized soft-tissue calcifications throughout the body, extremities, and face. Calcinosis cutis occurs through a variety of pathogenetic mechanisms. Case reports on calcinosis cutis in infants are uncommon, and the calcifications are mostly localized. In our patient, they are generalized.     

EPIDERMOLYSIS BULLOSA IN ASSOCIATION WITH APLASIA CUTIS CONGENITA AND PYLORIC ATRESIA

ABSTRACT. A female infant born to a mother who had an elevated serum alpha-fetoprotein during early pregnancy, presented a combinstion of epidermolysis bullosa and aplasia cutis congenita. She developed evidence of upper gastrointestinal obstruction and died at the age of 43 hours. Post-mortem examination showed the presence of pyloric atresia and electron microscopy of skin biopsies showed epidermolysis bullosa simplex. Examination of the placenta revealed a unique abnormality of the membranes, indicating the existence of two sacs. This case and the previously reported cases, which are reviewed, suggest an autosomal recessive inheritance. Serum alphafetoprotein estimation, ultrasonography and fetoscopy with skin biopsy are suggested as a means of pre-natal diagnosis in future pregnancies.     

Isolated congenital tuberculosis otitis in a preterm infant

We report an unusual case of localized congenital tuberculosis otitis in a preterm infant. Unlike disseminated congenital cases, the manifestations of localized otitis are associated with a triad of signs: (i) regional lymphadenopathy in the absence of typical systemic features of tuberculosis; (ii) delayed onset of presentation; and (iii) refractory otitis unresponsive to conventional antimicrobial agents. The need for greater diligence in looking for neonatal tuberculosis is emphasized, especially in an ethnic or socioeconomic environment where the disease is prevalent. Congenital tuberculosis, otitis, preterm
PC Ng, Department of Paediatrics, Level 6, Clinical Sciences Building, Prince of Wales Hospital, Shatin, NT, Hong Kong     

Cutis marmorata telangiectatica congenita: An unusual presentation with monoatrophy in two Chinese children

Cutis marmorata telangiectatica congenita (CMCT) is a rare cutaneous vascular anomaly. Two children with monoatrophy of one limb referred for neurological assessment were found to have a segmental form of CMTC. The paediatrician and paediatric neurologist should be alerted to this rare disease in children referred for cutaneous lesion with associated limb asymmetries as distinguished from other neurocutaneous syndromes.     

Congenital pyloric atresia and junctional epidermolysis bullosa: a report of two cases

The association between epidermolysis bullosa (EB) and congenital pyloric atresia (CPA) is rare, but is known distinct clinical entity with autosomal recessive inheritance. The outcome of such an association was universally fatal. This is a report of two newborns with EB and CPA, associated with additional aplasia cutis congenita in one case. One patient was treated postoperatively with phenytoin and survived. Aspects of the diagnosis, pathogenesis, and management are also discussed. Accepted: 26 April 1999     

Percutaneous alcohol absorption and skin necrosis in a preterm infant.

A 27-week gestation infant developed severe haemorrhagic skin necrosis on the back and buttocks after umbilical arterial catheterisation. Before catheterisation the skin was cleaned with methylated spirits. A blood alcohol level taken 18 hours after catheterisation showed a blood ethanol level of 259 mg/100 ml and a blood methanol level of 26 mg/100 ml. We conclude that the methylated spirits caused this extensive skin damage and that percutaneous absorption via the readily permeable skin of this immature baby resulted in the dangerously high alcohol levels.     

Aplasia cutis congenita of both knees: A new therapeutic strategy

Aplasia cutis congenita is defined as the absence of all layers of the skin. The condition involves mainly the scalp but it can affect any area of skin on the body. A clear therapeutic strategy is not available. Here, we describe the 6-year clinical outcome of a patient with aplasia cutis congenita of both knees following treatment with an artificial dermis and a thin skin graft.     

Localized persistent pulmonary interstitial emphysema in a preterm infant in the absence of mechanical ventilation

Localized persistent pulmonary interstitial emphysema has rarely been reported in preterm infants in the absence of utilization of mechanical ventilation or continuous positive airway pressure. The relative rarity of this condition might preclude rendering of the correct diagnosis, making patients susceptible to unnecessary surgery and increased morbidity and mortality associated with such intervention. We present a preterm infant who developed respiratory distress and radiographic findings of pulmonary interstitial emphysema on the first day after birth, prior to receiving continuous positive airway pressure or mechanical ventilation. It is important for radiologists to consider localized persistent pulmonary interstitial emphysema in the differential diagnosis of cystic lung lesions in preterm infants, even in the absence of mechanical ventilation. In cases where there is uncertainty, CT imaging can be useful in making the correct diagnosis.     

Aplasia cutis congenita: new evidence supporting the amniotic band theory of origin

We present two cases of aplasia cutis congenita (ACC). The scalp alone was involved in the first baby, who died from massive sagittal sinus hemorrhage. The second neonate presented with circumferential constrictive trunk ulcers and healed scars on the thighs, axillae, and temples in addition to the scalp lesion. This baby was successfully treated with local flap cover of the scalp and trunk ulcers. A biopsy from the edge of the scalp ulcer revealed a dermoid cyst. This provides new evidence in support of the amniotic band theory of origin of ACC. Correspondence to: S. Sen     

Cholelithiasis in a preterm infant

A case of cholelithiasis in a preterm infant is described. The baby survived for 105 days, during which time she received multiple blood transfusions. Three pigment stones were found in the gallbladder at necropsy. It is suggested that they were a consequence of an excessive bilirubin load, the result of maintaining the hemoglobin above physiological levels.