Corneal changes, hyperkeratosis, short stature, brachydactyly, and premature birth: A new autosomal dominant syndrome

Stern, Judith K.; Lubinsky, Mark; Durrie, Daniel S.; Luckasen, John R.; Opitz, John M.

doi:10.1002/ajmg.1320180111

Cited by 9 publications

(4 citation statements)

References 15 publications

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“…The corneo‐dermato‐osseous syndrome was described by Stern et al 1984 in a single family showing congenital corneal epithelial dysplasia, palmo‐plantar dyskeratosis, and malformations of the phalanges and metacarpals which were not described as acroosteolysis. The features in our patient were not congenital and hearing loss was not a feature in Stern's family.…”

Section: Discussionmentioning

confidence: 97%

Thermally expandable microspheres with excellent expansion characteristics at high temperature

Jonsson

Nordin²,

Kron³

et al. 2010

J of Applied Polymer Sci

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Thermally expandable core/shell particles with a poly(acrylonitrile-co-methacrylonitrile) shell and a hydrocarbon core (blowing agent) have been prepared by suspension polymerization. The objective of this study was to gain a deeper understanding of the parameters determining the expansion properties of these microspheres. It was found that the amount, the boiling point, and the structure of the blowing agent are important parameters for the expansion properties. For example, a higher maximum expansion was reached when using bulkier blowing agents and thus a lower diffusion rate through the polymer shell. Further, the amount and structure of the crosslinker were also found to be essential for the expansion properties. For this particular system, it was found that a dimethacrylate-functional crosslinker gave significantly better expansion when compared with diacrylate-or divinylether-based crosslinkers. Beside these parameters, it was also observed that the particle-size distribution influence the expansion properties of the microspheres. V C

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Section: Discussionmentioning

confidence: 97%

Thermally expandable microspheres with excellent expansion characteristics at high temperature

Jonsson

Nordin²,

Kron³

et al. 2010

J of Applied Polymer Sci

View full text Add to dashboard Cite

show abstract

“…The corneo-dermato-osseous syndrome was described by Stern et al [1984] in a single family showing congenital corneal epithelial dysplasia, palmo-plantar dyskeratosis, and malformations of the phalanges and metacarpals which were not described as acroosteolysis. The features in our patient were not congenital and hearing loss was not a feature in Stern's family.…”

Section: Discussionmentioning

confidence: 99%

Blepharophimosis, corneal vascularization, deafness, and acroosteolysis: A “new” syndrome?

Warburg¹,

Ullman²,

Jensen³

et al. 2006

American J of Med Genetics Pt A

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We report on a patient with blepharophimosis who after unsuccessful surgery developed progressive corneal vascularization. The patient had conductive hearing loss, acroosteolysis of the phalanges, arthropathy, loss of subcutaneous fat of the hands, feet and face, and oligospermia. He had had spontaneous pneumothorax four times. We have found no similar case reports in the literature and suggest that this is a new syndrome, which must be differentiated from hereditary mucoepithelial dysplasia, mandibuloacral dysplasia, keratitis-ichthyosis-deafness syndrome, Hajdu-Cheney syndrome, Penttinen syndrome, and mucopolysaccharidoses.

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“…9). The combination of multiple features of ectodermal developmental failure, resulting in primary nail dystrophy, reduced sweat glands, hypo/athelia (rudimentary or absent nipple and areola), hypotrichosis and teeth anomalies, defines ectodermal dysplasia with PPK [175][176][177][178][179][180][181][182][183][184][185][186][187][188][189] (Table 11). Finally, there is a restricted number of multisystem genetic disorders accounting PPK as an additional and often clinically minor feature within a broader dysfunction and extending from a hereditary cancer predisposition syndrome (Fig.…”

Section: Palmoplantar Keratodermas In Other Genetic Diseasesmentioning

confidence: 99%

Hereditary palmoplantar keratodermas. Part II: syndromic palmoplantar keratodermas – Diagnostic algorithm and principles of therapy

Guerra

Castori²,

Didona

et al. 2018

Acad Dermatol Venereol

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Hereditary palmoplantar keratodermas (PPKs) comprise a large and heterogeneous group of disorders characterized by persistent thickening of the epidermis at palmar and plantar surfaces. Clinical and genetic features of isolated and complex PPKs have been reviewed in part I of this 2-part review. Here we focus on clinical and molecular classification of syndromic PPKs which are recognized by additional extracutaneous manifestations, in particular deafness, specific mucosal lesions, cardiomyopathy, inborn errors of metabolism, involvement of internal organs or disorders of sexual development. Other genetic diseases, which may show palmoplantar involvement, such as selected subtypes of hereditary epidermolysis bullosa, various hereditary ichthyoses and other keratinization disorders, several ectodermal dysplasias and some multisystem genetic disorders, are also briefly summarized. PPK diagnosis is based on inheritance pattern, age at onset, morphology, distribution and severity of hyperkeratosis, pattern of additional dermatological and systemic manifestations and laboratory findings. Molecular analysis is at present the gold standard to confirm the diagnosis in PPK forms due to mutations in known causative genes. No specific and curative therapy is currently available for PPKs which highly impair patients' quality of life. Topical treatments are symptomatic and offer only temporary relief. Among systemic treatments, retinoids improve disease symptoms in the majority of patients.

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Corneal changes, hyperkeratosis, short stature, brachydactyly, and premature birth: A new autosomal dominant syndrome

Cited by 9 publications

References 15 publications

Thermally expandable microspheres with excellent expansion characteristics at high temperature

Thermally expandable microspheres with excellent expansion characteristics at high temperature

Blepharophimosis, corneal vascularization, deafness, and acroosteolysis: A “new” syndrome?

Hereditary palmoplantar keratodermas. Part II: syndromic palmoplantar keratodermas – Diagnostic algorithm and principles of therapy

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