Microphthalmia with linear skin defects syndrome is an X-linked dominant disorder characterized by microphthalmia and other ocular anomalies as well as linear, jagged skin defects typically involving the scalp, face, neck, and upper trunk. Other associated characteristics include short stature, developmental delay, congenital heart defects, diaphragmatic hernia, agenesis of the corpus callosum, anencephaly, hydrocephalus, and seizures. Microphthalmia with linear skin defects syndrome is now known to be associated with a deletion of the X chromosome at Xp22. This is an area that has been found to include the HCCS gene, which encodes a holocytochrome c-type synthase believed to be critical in the regulation of apoptosis. We present a patient with classic clinical and genetic findings of MLS syndrome and discuss the primary characteristics and management of this disorder.
"In addition, the central and inferotemporal opacities of the right cornea in the proband represent the mild end of the spectrum of corneal opacification, of which classic sclerocornea is the extreme end. Corneal opacification has been described in 15 patients, and sclerocornea in 17 patients reported with ocular involvement [3,6,11,15,19,24,29,30]. "
[Show abstract][Hide abstract] ABSTRACT: Microphthalmia with linear skin defects syndrome (MLS or MIDAS, OMIM #309801) is a rare X-linked male-lethal disorder characterized by microphthalmia or other ocular anomalies and skin lesions limited to the face and neck. However, inter- and intrafamilial variability is high. Here we report a familial case of MLS.
A mother and daughter with MLS underwent a complete ophthalmological examination, and extensive imaging, including anterior segment pictures, corneal topography and keratometry, autofluorescence, infrared reflectance and red free images, as well as spectral-domain optical coherence tomography. The mother also underwent full-field flash electroretinography. In addition, high-resolution array comparative genomic hybridization analysis was performed in both as well as in the maternal grandparents of the proband.
Microphthalmia and retinal abnormalities were noted in the proband and the mother, whereas only the mother presented with scars of the typical neonatal linear skin defects. Array comparative genomic hybridization analysis revealed a 185-220 kb deletion on chromosome band Xp22.2 including the entire HCCS gene.
The identification of a deletion including HCCS led to the diagnosis of MLS in these patients. Retinal abnormalities can be part of the ocular manifestations of MLS.
"On the other hand, the presence of multiple facial and oral congenital defects in unusual sites is a rarer abnormality. In our patient, the differential diagnosis included Delleman syndrome, encephalo-cranio-cutaneous lipomatosis, Setleis syndrome, microphthalmia with linear skin defects syndrome, Goltz syndrome, branchio-oculo-facial syndrome , and fetal varicella syndrome (Table I) [Sauerbrei and Wutzler, 2000; McGaughran and Aftimos, 2002; Hunter, 2006; Grzeschik et al., 2007; Milunsky et al., 2008; Sharma et al., 2008; Moog, 2009]. In our patient, the localization pattern of skin atrophic lesions (periocular, forehead) and the additional skin (generalized eccrine proliferation) and oral (gingival synechiae) anomalies ease differentiation. "
[Show abstract][Hide abstract] ABSTRACT: Epidermal nevus syndrome is a clinically variable and genetically heterogeneous group of mosaic conditions characterized by the concurrence of extensive epidermal nevus with additional cutaneous and extracutaneous manifestations. This term groups together well-characterized clinical entities, as well as dozens of apparently unique associations, which need further delineation. We report on a 23-year-old woman presenting the previously undescribed combination of widespread eccrine proliferation, multiple facial and oral pox-like lesions, gingival synechiae, blepharophimosis, body asymmetry, and mental retardation. The patient has a healthy monozygotic twin. The eccrine proliferation is intermingled with areas of unaffected skin with a linear/segmental distribution on the limbs. The clinical presentation of such a complex phenotype fits well with the genetic mosaicism theory. The histologic findings, consisting of proliferation of immature to well-formed eccrine duct-like structures located in the deep dermis and interspersed with an abundant fibrous stroma constituted of horizontally oriented collagen fibers, seem a possible hallmark of this condition.
American Journal of Medical Genetics Part A 01/2010; 152A(1):25-31. DOI:10.1002/ajmg.a.33175 · 2.16 Impact Factor
Data provided are for informational purposes only. Although carefully collected, accuracy cannot be guaranteed. The impact factor represents a rough estimation of the journal's impact factor and does not reflect the actual current impact factor. Publisher conditions are provided by RoMEO. Differing provisions from the publisher's actual policy or licence agreement may be applicable.