Female patient, 1 year 2 months old seen at the Hospital de Carabineros Santiago, Chile, with a 28-year-old mother by cesarean section.
With a weight of 3,163 grams, height 49cm and head circumference close to 35cm.
At birth, vesicular lesions are observed in the lower extremities, glue zone and armpits that break when the skin is removed, leaving erythematous and scaly lesions.
She was first diagnosed with bullous epidermolysis, which was subsequently discarded.
The patient also had vertex alopecia and cleft palate.
1.
The article refers to pathology that performs a fundus examination of pigment epithelium with little pigment in general, normal rest.
Neurologist evaluation was normal.
Pathologist considers the diagnosis of IP skin biopsy is performed finding the sample within normal histological limits, but another new sample is recommended.
Seen by clinical gene, the X-linked dominant inheritance pattern is confirmed, since the mother presented the same lesions at birth.
He was also referred to the maxillofacial unit for PC.
At 10 months of age, the patient was operated on for cleft palate, functionally reconstructing the palatine velum muscle annealing and consolidation without presenting postoperative complications.
