Dermatoscopic aspects of the Microphthalmia with Linear Skin Defects (MLS) Syndrome

Abstract

The association of microphthalmia and linear skin defects was named microphthalmia with linear skin defects syndrome (MLS) or MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea), an X-chromosomal disorder manifesting mainly in females. We examined a female newborn with facial linear skin defects following the Blaschko lines. Computer tomography and ophthalmological examination confirmed bilateral microphthalmia. An interstitial microdeletion at Xp22.2, encompassing the entire HCCS gene, was identified. Dermatoscopic examination showed erythematous linear areas with telangectasias and absence of sebaceous glands, which appear as brilliant white dots. Vellus hairs were also absent in the red areas. Dermatoscopy could help to establish the diagnosis of MLS/MIDAS syndrome by confirming the aplastic nature of the lesions.

Linear skin defects and microphthalmia

“…It has been hypothesized that the particular involvement of neural crest cells explains the linear skin defects restricted to the face and neck . The defects demonstrate dermoscopic features of telangiectasias and absence of sebaceous glands and vellus hair . Clinical differential diagnoses may include Goltz syndrome and oculocerebrocutaneous syndrome.…”

Cutaneous Mosaicism and Dermatoses with Mosaic Pattern: Review

“…Sıklıkla yüz-boyun bölgesindeki Blaschko çizgilerini izleyen eritemli, telenjiektatik ve aplazik lezyonlarla seyreder. Etkilenen bölgede sebase bezler ve vellus kıl-ları da bulunmamaktadır.1 4,33 f f) ) X X' 'e e b ba ağ ğl lı ı h hi ip po oh hi id dr ro ot ti ik k e ek kt to od de er rm ma al l d di is sp pl la az zi i: Ektodermal displaziler bir grup hastalığı kapsamaktadır. Bunlar arasında en sık görüleni X'e bağlı resesif olarak kalıtılan hipohidrotik ektodermal displazidir.…”