Geometric Facial Erosions on a Newborn

Main Article Content

Matthew LaCour

Keywords

Genetic disease, Genodermatoses, Skin signs of a systemic disease

Abstract

When a newborn exhibits dermal aplasia on the face and neck, especially if there are ocular anomalies, further investigation is needed to determine if they have MiDAS (microphthalmia, dermal aplasia, and sclerocornea) or other syndromes with associated skin findings. It is essential to diagnose MiDAS syndrome early in life to allow for thorough workup to determine if there are any associated abnormalities in the child that require treatment. While the skin lesions of MiDAS syndrome heal spontaneously, other associated abnormalities require early intervention and can be life threatening.

References

1.Morleo M, Pramparo T, Perone L, et al. Microphthalmia with Linear Skin Defects (MLS) Syndrome: Clinical, Cytogenetic, and Molecular Characterization of 11 Cases. American Journal of Medical Genetics Part A. 2005; 137A(2), 190-198. doi:10.1002/ajmg.a.30864.

2.Rahden VAV, Rau I, Fuchs S, et al. Clinical Spectrum of Females with HCCS Mutation: From no Clinical Signs to a Neonatal Lethal Form of the Microphthalmia with Linear Skin Defects (MLS) Syndrome. Orphanet journal of rare diseases. 2014; 9 (1): 53-53. doi:10.1186/1750-1172-9-53.

3.Garcia-Rabasco A, De-Unamuno B, Martinez F, Febrer-Bosch, Alegre-De-Miquel V. Microphthalmia with Linear Skin Defects Syndrome. Pediatric Dermatology. 2012; 30(6). doi:10.1111/j.1525-1470.2012.01735.x.

4.Wimplinger I, Rauch A, Orth U, Schwarzer U, Trautmann U, Kutsche K. Mother and daughter with a terminal Xp deletion: Implication of chromosomal mosaicism and X-inactivation in the high clinical variability of the microphthalmia with linear skin defects (MLS) syndrome. European Journal of Medical Genetics. 2007; 50(6):421-31. doi:10.1016/j.ejmg.2007.07.004

5.Jr. HLDA, Rossi G, Abreu LBD, Bergamaschi C, Silva ABD, Kutsche K. Dermatoscopic aspects of the Microphthalmia with Linear Skin Defects (MLS) Syndrome. Anais Brasileiros de Dermatologia. 2014; 89(1), 180-181. doi:10.1590/abd1806-4841.20142240.

6.Happle R, Daniels O, Koopman, RJJ. MIDAS Syndrome (micropthalmia, dermal aplasia, and sclerocornea): An X-Linked phenotype distinct from Goltz syndrome. American Journal of Medical Genetics. 1993; 47(5):710-3. doi:10.1002/ajmg.1320470525.

7.Carman KB, Yakut A, Sabuncu I, Yarar C. MIDAS (microphthalmia, dermal Aplasia, sclerocornea) syndrome with central nervous system abnormalities. Clinical dysmorphology. 2009;18(4), 234-5. doi:10.1097/mcd.0b013e32832e38a6.

8.Naritomi K, Izumikawa Y, Nagataki S, et al. Combined Goltz and Aicardi syndromes in a terminal Xp deletion: Are they a contiguous gene syndrome? American Journal of Medical Genetics. 1992; 43(5):839-43. doi:10.1002/ajmg.1320430517.

9.Anguiano A, Yang X, Felix J, Hoo J. Twin brothers with MIDAS Syndrome and XX karyotype. American Journal of Medical Genetics. 2003;119A(1):47-49. doi:10.1002/ajmg.a.10172.

10.Morleo, M., Franco, B. Microphthalmia with Linear Skin Defects Syndrome. In: GeneReviews. Seattle (WA): University of Washington, Seattle; 1993-2017. 2009 Jun 18.

Most read articles by the same author(s)