MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea): An X‐linked phenotype distinct from Goltz syndrome

Happle, Rudolf; Daniëls, Otto; Koopman, Roland J.J.

doi:10.1002/ajmg.1320470525

Cited by 115 publications

(83 citation statements)

References 13 publications

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“…The MIDAS syndrome [14] on the contrary shows skin features which resemble the skin changes in IP (table 2). Here, however, the ocular involvement is very different: in the MIDAS syndrome there is microphthalmia, very often corneal opacities, secondary glaucoma and orbital cysts.…”

Section: Differential Diagnosis To Other Hereditary Dermatoses With Omentioning

confidence: 99%

“…Other dominantly inherited disorders which affect the skin and eye simultaneously are the NFS syndrome (Naegeli-Franceschetti-Jadassohn syndrome) and the MIDAS syndrome (microphthalmia-dermal aplasia-sclerocornea syndrome), the latter of which is transmitted in an Xlinked autosomal way as well (tables 1, 2 [14,17].…”

Section: Differential Diagnosis To Other Hereditary Dermatoses With Omentioning

confidence: 99%

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Incontinentia pigmenti (Bloch-Sulzberger-Syndrome): Case Report and Differential Diagnosisto Related Dermato-Ocular Syndromes

Käsmann‐Kellner

Jurin-Bunte²,

Ruprecht³

1998

Ophthalmologica

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Background: Incontinentia pigmenti (IP; Bloch-Sulzberger syndrome) is an inherited disorder of skin pigmentation that is associated with skin (100%), dental (90%), skeletal (40%), central nervous (40%) and ocular (35%) abnormalities. The pathogenesis is not yet known. The disease is usually seen in females, as it is an X-linked dominantly inherited disease which is lethal in males. Patient Presentation: We present a 9-year-old girl with the classical general and ocular signs of IP. She presented in early childhood with inflammatory vesicular skin changes which changed into pigmented skin alterations especially on the trunk. Ocular findings were microphthalmia and retrolental mass formation in one eye and retinal pigmentary changes in the other. In our patient, the spontaneous mutation may have been caused by the family’s close neighbourhood to Semipalatinsk, Kasachstan, where regular nuclear tests took place very shortly before the pregnancy with our patient began. Discussion: Ocular involvement is described in about a third of persons affected with IP. A nearly consistent and pathognomonic finding is a pigment retinopathy (mottled diffuse hypopigmentations). A further consistent finding are abnormalities of peripheral retinal vessels with areas of non-perfusion in the outer retina. The retinal pigment epitheliopathy and the abnormalities of retinal vessels are thought to be the underlying pathognomonic findings, with all other ocular signs being secondary (cataract, leucocoria, optic atrophy, strabismus, nystagmus and microphthalmus). Exudative retinal detachment occurs only in a minority, usually in very early childhood, when the skin lesions are exudative as well. IP patients should, however, be clinically observed regularly because of their retinal pigmentary changes.

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Section: Differential Diagnosis To Other Hereditary Dermatoses With Omentioning

confidence: 99%

Section: Differential Diagnosis To Other Hereditary Dermatoses With Omentioning

confidence: 99%

Incontinentia pigmenti (Bloch-Sulzberger-Syndrome): Case Report and Differential Diagnosisto Related Dermato-Ocular Syndromes

Käsmann‐Kellner

Jurin-Bunte²,

Ruprecht³

1998

Ophthalmologica

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“…For example, skin lesions are limited to the face and neck in MLS syndrome and skeletal abnormalities, such as clefting of hands or feet, and syndactyly are only present in patients with FDH. 8,9 Recently, the underlying genetic defects of FDH and MLS syndrome have been identified. Heterozygous mutations in the HCCS gene (Xp22.2), encoding the mitochondrial holocytochrome c-type synthase are responsible for MLS.…”

Section: Introductionmentioning

confidence: 99%

Goltz–Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap

et al. 2009

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Focal dermal hypoplasia (FDH) is an X-linked developmental disorder with male lethality characterized by patchy dermal hypoplasia, skeletal and dental malformations, and microphthalmia or anophthalmia. Recently, heterozygous loss-of-function mutations in the PORCN gene have been described to cause FDH. FDH shows some clinical overlap with the microphthalmia with linear skin defects (MLS) syndrome, another X-linked male lethal condition, associated with mutations of HCCS in the majority of cases. We performed DNA sequencing of PORCN in 13 female patients with the clinical diagnosis of FDH as well as four female patients with MLS syndrome and no mutation in HCCS. We identified PORCN mutations in all female patients with FDH. Eleven patients seem to have constitutional PORCN alterations in the heterozygous state and two individuals are mosaic for the heterozygous sequence change in PORCN. No PORCN mutation was identified in the MLS-affected patients, providing further evidence that FDH and MLS do not overlap genetically. X chromosome inactivation (XCI) analysis revealed a random or slightly skewed XCI pattern in leukocytes of individuals with intragenic PORCN mutation suggesting that defective PORCN does not lead to selective growth disadvantage, at least in leukocytes. We conclude that the PORCN mutation detection rate is high in individuals with a clear-cut FDH phenotype and somatic mosaicism can be present in a significant proportion of patients with mild or classic FDH.

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“…The phenotypic variations are significant and some patients possess only one of the two major anomalies. To date, 22 affected individuals have been reported (Ropers et al 1982;Al-Gazali et al 1988;Donnenfeld et al 1990;Temple et al 1990;Allanson and Richter 1991;Gericke et al 1991;Thies et al 1991;Lindor et al 1992;Naritomi et al 1992;Happle et al 1993;Schaefer et al 1993;1996;Bird et al 1994;Eng et al 1994;Lindsay et al 1994;Mucke et al 1995;Stratton et al 1998).…”

Section: Introductionmentioning

confidence: 99%

“…Cytogenetic studies of MLS syndrome have revealed a variety of sexchromosome aberrations, including del Xp22 (-pter) in 11 female patients, translocation between the X and an autosomal chromosome in five female patients, X;Y translocation in four female patients, 46,XX in two female patients, of whom one did not undergo high-resolution analysis (Happle et al 1993) and the other with a normal karyotype who did (Bird et al 1994), as well as two XX male patients. Recent molecular investigations of Xp microdeletions in MLS syndrome have detailed the critical region of the genetic map 1996).…”

Section: Introductionmentioning

confidence: 99%

Another observation of microphthalmia in an XX male: microphthalmia with linear skin defects syndrome without linear skin lesions

et al. 1999

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A case of microphthalmia with Xp microdeletion is reported. The patient was a boy who showed bilateral microphthalmia with corneal opacities, hypospadias without evidence of hypogonadism, and a conduction disturbance of the heart (Wenckebach conduction). No skin lesion was discerned. High-resolution chromosome analysis revealed the karyotype of 46,X,del(X)(p22). The phenotype was considered to be microphthalmia with linear skin defects (MLS) syndrome without skin lesions. Polymerase chain reaction and fluorescence in-situ hybridization analyses revealed that the chromosome aberration resulted from an X;Y translocation: the presence of pseudoautosomal boundary Y and the sex-determining region of Y was confirmed, while Xp deletion involving the region distal to DXS1129 was ascertained. Thus the chromosome designation using the ISCN 1995 nomenclature is 46,X,der(X),t(X;Y)(p22.13;q11.2). Despite the absence of skin lesions, the Xp deletion of our patient corresponded to those of previously reported typical cases of MLS syndrome. Our observation further supports the current hypothesis that the phenotypic variation of MLS syndrome represents tissue-different X inactivation rather than different genetic effects of two contiguous genes.

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MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea): An X‐linked phenotype distinct from Goltz syndrome

Cited by 115 publications

References 13 publications

Incontinentia pigmenti (Bloch-Sulzberger-Syndrome): Case Report and Differential Diagnosisto Related Dermato-Ocular Syndromes

Incontinentia pigmenti (Bloch-Sulzberger-Syndrome): Case Report and Differential Diagnosisto Related Dermato-Ocular Syndromes

Goltz–Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap

Another observation of microphthalmia in an XX male: microphthalmia with linear skin defects syndrome without linear skin lesions

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