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

Kluger, Nicolas; Bouissou, Antoine; Tauzin, Laurent; Puechberty, Jacques; Dereure, O.

doi:10.2340/00015555-1688

Cited by 5 publications

(4 citation statements)

References 12 publications

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“…In addition, irregular bundles of smooth muscle were observed in the deep dermis while adnexal structures were missing [49]. In a different study, dermatoscopic examination demonstrated erythematous areas with telangiectasias accompanied by an absence of sebaceous glands and vellus hairs, thus confirming the histopathological findings [64]. Notably, all investigations performed on the cutaneous wounds were done on LSDMCA1 patients.…”

Section: The Clinical Spectrum Of Lsdmcamentioning

confidence: 68%

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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Section: The Clinical Spectrum Of Lsdmcamentioning

confidence: 68%

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

Indrieri

Bazzoli

2021

Genes

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“…Microphthalmia with linear skin defects syndrome (MIDAS) (MIM 309801) is a rare syndrome with an X-linked dominant transmission pattern, with male lethality 1. It is associated with deletions or unbalanced translocations in the short arm of X-chromosome (Xp22.3) 2.…”

Section: Descriptionmentioning

confidence: 99%

“…The most consistent clinical features of MIDAS are microphthalmia and/or anophthalmia, sclerocornea and linear skin defects with dermal aplasia limited to face and neck, which were all present in this case and raised the clinical suspicion before the final diagnosis. Nervous system and cardiac anomalies, development delay, diaphragmatic hernia and genitourinary tract abnormalities, hearing loss and anal atresia with ectopic anus and fistula can also be present 1–3…”

Section: Descriptionmentioning

confidence: 99%

Microphthalmia with linear skin defects syndrome (MIDAS)

et al. 2019

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“…Both genes are part of mitochondrial complex IV. 2 Clinically, it is characterized by unilateral or bilateral microphthalmia with regularly linear skin defects of the face and neck, which are present from birth and disappear with age, leaving minimal residual scarring. Other findings may include central nervous system involvement (e.g., structural abnormalities, infantile seizures), developmental delay, cardiac defects (hypertrophic cardiomyopathy, oncocytic cardiomyopathy, and arrhythmias), short stature, diaphragmatic hernia, nail dystrophy, and genitourinary malformations.…”

Section: Introductionmentioning

confidence: 99%

Midas syndrome (microphthalmia syndrome and linear defects of the skin): case report

Garza¹,

Itzel²,

Cristina³

et al. 2022

JPNC

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

Cited by 5 publications

References 12 publications

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

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

Microphthalmia with linear skin defects syndrome (MIDAS)

Midas syndrome (microphthalmia syndrome and linear defects of the skin): case report

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