Microphthalmia with linear skin defects (MLS) syndrome: familial presentation

Kumar, Pratap; Rajab, Anna

doi:10.1111/ced.13298

Cited by 3 publications

(2 citation statements)

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“…Microphthalmia and linear skin defects syndrome (MLS), also known as MIDAS syndrome, 1 is a rare neurocutaneous X-linked dominant disorder with a wide spectrum of clinical manifestations in females and is usually lethal in males. [2][3][4][5][6] It is clinically characterized by linear skin lesions, usually limited to face and neck, microphthalmia, sclerocornea and cardiac and neurological abnormalities. [5][6][7][8][9] The cutaneous manifestations include irregular linear erythematous, atrophic patches, congenital muscle hamartoma, which is clinically characterized by linear brown striations or pink plaques, and preauricular pits.…”

Section: Introductionmentioning

confidence: 99%

“…[2][3][4][5][6] It is clinically characterized by linear skin lesions, usually limited to face and neck, microphthalmia, sclerocornea and cardiac and neurological abnormalities. [5][6][7][8][9] The cutaneous manifestations include irregular linear erythematous, atrophic patches, congenital muscle hamartoma, which is clinically characterized by linear brown striations or pink plaques, and preauricular pits. 9,10 Patients with unusual manifestations, such as short stature, genitourinary anomalies, cleft palate, enamel defects, agenesis of corpus callosum, hydrocephalus, developmental delay, congenital heart defects, and variable facial gestalt, have rarely been reported.…”

Section: Introductionmentioning

confidence: 99%

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Microphthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2

et al. 2020

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The authors describe the clinical findings observed in a Brazilian girl that are suggestive of microphthalmia and linear skin defects (MLS) also known as MIDAS syndrome (OMIM #309801). She also presented with short stature, agenesis of corpus callosum, cleft palate, enamel defects, and genitourinary anomalies, which are rarely reported within the clinical spectrum of MLS. The 11,5 Mb deletion in Xp22.3p22.2 observed in the patient includes the entire HCCS gene (responsible for the MLS phenotype) and also encompasses several other genes involved with behavioral phenotypes, craniofacial and central nervous system development such as MID1, NLGN4X, AMELX, ARHGAP6, and TBL1X. The whole clinical features of our proband possibly represents an unusual MLS syndromic phenotype caused by an Xp22.3p22.2 continuous gene deletion.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Microphthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2

et al. 2020

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MIDAS Syndrome (Microphthalmia with Linear Skin Defects)

Hagel

Panteliadis

2022

Neurocutaneous Disorders

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Linear Skin Defects with Multiple Congenital Anomalies (LSDMCA): An Unconventional Mitochondrial Disorder

Indrieri

Bazzoli

2021

Genes

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Mitochondrial disorders, although heterogeneous, are traditionally described as conditions characterized by encephalomyopathy, hypotonia, and progressive postnatal organ failure. Here, we provide a systematic review of Linear Skin Defects with Multiple Congenital Anomalies (LSDMCA), a rare, unconventional mitochondrial disorder which presents as a developmental disease; its main clinical features include microphthalmia with different degrees of severity, linear skin lesions, and central nervous system malformations. The molecular basis of this disorder has been elusive for several years. Mutations were eventually identified in three X-linked genes, i.e., HCCS, COX7B, and NDUFB11, which are all endowed with defined roles in the mitochondrial respiratory chain. A peculiar feature of this condition is its inheritance pattern: X-linked dominant male-lethal. Only female or XX male individuals can be observed, implying that nullisomy for these genes is incompatible with normal embryonic development in mammals. All three genes undergo X-inactivation that, according to our hypothesis, may contribute to the extreme variable expressivity observed in this condition. We propose that mitochondrial dysfunction should be considered as an underlying cause in developmental disorders. Moreover, LSDMCA should be taken into consideration by clinicians when dealing with patients with microphthalmia with or without associated skin phenotypes.

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Microphthalmia with linear skin defects (MLS) syndrome: familial presentation

Cited by 3 publications

References 2 publications

Microphthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2

Microphthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2

MIDAS Syndrome (Microphthalmia with Linear Skin Defects)

Linear Skin Defects with Multiple Congenital Anomalies (LSDMCA): An Unconventional Mitochondrial Disorder

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