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A 3-month-old girl was evaluated for congenital depressed lesions on the right hemiface, neck and hand. She was born at full term by caesarean section with normal birth weight, height and head circumference. Family history was unremarkable. The non-consanguineous parents already had a healthy daughter. Dermatological examination displayed markedly depressed, sharply demarcated, red-pink streaks, predominantly affecting the right side of the face (mainly cheek and chin) and the neck (Fig. 1), along with similar, although less marked lesions on the left cheek, the left side of the neck and the right hand following Blaschko’s lines. She showed small-sized or aplastic fingernails on the right hand. Ophthalmologic evaluation revealed right microphthalmia, aniridia and sclerocornea. Physical examination was otherwise normal. Chest X-ray, transfontanellar, heart and abdominal ultrasound imaging were unremarkable. A diagnosis of Microphthalmia with Linear Skin defects (MLS; MIM 309801) syndrome, also known as MIDAS (MIcrophthalmia, Dermal Aplasia and Sclerocornea) syndrome was made. Routine karyotyping was unremarkable in the patient. After obtaining parental consent, a peripheral blood sample of the patient was further investigated by fluorescence in situ hybridization (FISH) using a panel of molecular probes spanning the terminal region of the short arm of the X chromosome (Xpter, CEP-X, Kallmann, RP1167A22, RP11-120D5, RP11-450G14 and RP11-163I1 probes). This analysis revealed a terminal deletion of at least 11.5 Mb on the short arm of one of the X chromosomes, with the karyotype 46,X,del(X)(p22.2). More specifically, hybridisation with probe RP11-163I1, covering the HCCS gene, revealed no signal on the deleted X chromosome. FISH analysis of the parents and relatives disclosed the same Xp deletion in the mother of the patient who was free of any clinical sign of MLS. The maternal grandmother could not been investigated as she was deceased. At the age of 4 months, the patient developed tachycardia and limited signs of heart failure with multiple ectopic atrial tachycardia-inducing foci that were efficiently controlled by amiodarone. The right eye malformation was surgically corrected with an ocular prosthesis and a favourable outcome. Subsequent psychological and motor development was unremarkable.

Congenital Linear Streaks on the Face and Neck and Microphthalmia in an Infant Girl