To cite: Lacarrubba F, Micali G. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2013202918 DESCRIPTION A 4-year-old Caucasian girl presented with a 1-year history of asymptomatic, localised alopecia. Examination revealed a 3.5×3.0 cm area of alopecia over the right frontotemporal region of the scalp, with its apex towards the vertex (figure 1). There was no scali...

We report a twenty-seven-year-old man with the absence of hair on the scalp and eyebrows, which began shortly after his birth. One of his brothers had this problem too. Considering clinical signs and skin biopsy report of the patient, a diagnosis of congenital atrichia was made. The latest findings on the genetic of this disease will be reviewed.

BACKGROUND Hirschsprung's disease is one of the commonest causes of intestinal obstruction in neonates because of gut motility disorder. It is characterized as a complex genetic heterogenous disorder with variable inheritance. Hirschsprung's disease occurs as an isolated phenotype in majority (70 %) of cases. In other cases it may be associated with syndromes (such as Down's syndrome, Waardenbu...

Hair loss may accompany several endocrine disorders, including hypopituitarism, hypothyreosis, hyperthyreosis, hypoparathyroidism, diabetes mellitus, growth hormone deficiency, hyperprolactinaemia, polycystic ovary syndrome, SAHA syndrome, congenital adrenal hyperplasia, Cushing syndrome, or virilising tumours. Most patients with endocrine disorders present with diffuse non-scarring alopecia, s...

Congenital alopecia universalis is one of the rarest anomaly which involves skin and appendages. The inheritance pattern can be autosomal recessive, X-linked recessive, or autosomal dominant. However, the most common is autosomal recessive form and it is the most severe phenotype. Twenty-nail dystrophy refers to the condition in which all the twenty nails are affected in the form of excessive r...