[Basan's syndrome: Congenital absence of dermatoglyphs and milia]. / Absence de dermatoglyphes et grains de milium congénitaux: un nouveau cas de syndrome de Basan.

BACKGROUND: White micropapules are uncommon on the face newborns and are mainly due to sebaceous hyperplasia, or more rarely to milia. In some cases they may result from milia and profuse milia suggest rare diseases. CASE REPORT: We report the case of a newborn presenting with profuse congenital milia on the face that resolved spontaneously within a few months. DISCUSSION: This eruption revealed Basan's syndrome, a rare, autosomal dominant inherited dermatosis described as the association of profuse facial milia, acral bullae, absence of dermatoglyphs, and palmoplantar hypohydrosis.

[Congenital hypotrichosis and milia with spontaneous regression during adolescence or Oley syndrome: a variant of Bazex-Dupré-Christol syndrome]. / Hypotrichose congénitale et grains de milium régressifs à l'adolescence ou syndrome de Oley : variante du syndrome de Bazex, Dupré et Christol.

BACKGROUND: We report a family presenting the syndrome initially described by Oley characterized by congenital profus milia and hypotrichosis that regress during adolescence. CASE REPORT: A female infant with severe congenital hypotrichosis had profus milia involving the entire face. The remainder of the physical examination was normal. The mother had normal skin and hair but indicated she had had the same signs as a child. The patient's condition regressed from the age of 10 to 15 years but she has undergone several surgical resections for basocellular carcinoma since the age of 20. The maternal grandfather had spontaneously regressive typical follicular atrophodermia involving the back and the hands and also had several milium grains and several basocellular carcinomas. He had never presented hypotrichosis. DISCUSSION: Oley syndrome is defined as an association of congenital hypotrichosis and milia spontaneously regressive during adolescence. The symptoms presented by our patient and her mother are similar to this genodermatosis. Concomitant hypotrichosis, milia, basocellular carcinomas and follicular atrophodermia define the Bazex-Dupré-Christol syndrome. The grandfather's condition would be closer to this syndrome than Oley syndrome despite the spontaneous regression of certain anomalies during adolescence. This family study would suggest that the Bazex-Dupré-Christol syndrome and the Oley syndrome are two variants of the same condition.

Deletion 3q27----3qter in an infant with mild dysmorphism, parietal meningocele, and neonatal miliaria rubra-like lesions.

Deletion 3q27----3qter in an infant is described. A chromosomal abnormality was suspected because of minor facial dysmorphism and closed parietal meningocele. On the first day of life, a large exudative inflammation appeared on the skin of her back, which completely resolved after 1 week. Biopsy showed dilated sweat gland openings resembling miliaria rubra, which has not been previously reported in this age group. It is unclear if the skin change was due to the chromosomal abnormality. The meningocele was repaired at age 8 months. At age 20 months, slight neurodevelopmental delay was evident, the main features being hypertonicity and inability to walk without support. The patient has two healthy sisters, and prometaphase chromosome studies in both parents were normal. This infant represents the first example of del3q27----3qter and the first reported association of meningocele with an abnormality of chromosome 3.

[Sweat glands in pseudohypoaldosteronism]. / Die Schweissdrüsen beim Pseudohypoaldosteronismus.

Pseudohypoaldosteronism is a rare syndrome occurring during early infancy, which is mainly characterized by salt-depletion crises. Sodium chloride is lost via the kidneys resulting in a reduced sodium level and raised potassium level in the serum, leading to life-threatening disturbances of water and acid-base concentration. The excessive sodium loss seems to be caused by an unresponsiveness of the renal tubules to endogenous and exogenous mineralocorticoids. The colon, salivary and sweat glands, which are also involved in sodium reabsorption, may likewise be affected by the disease. We describe skin changes in two siblings suffering from pseudohypoaldosteronism, who developed seborrheic dermatitis, folliculitis or miliaria rubra-like lesions during salt-depletion crises. Biochemical analysis revealed a highly increased sodium-chloride concentration in the sweat, saliva, urine and stool of both patients. Destructive inflammatory reactions could be demonstrated histologically within and around the dermal sweat glands, thus indicating the important role of the sweat system in the pathogenesis of skin lesions in pseudohypoaldosteronism.