CErebral Dysgenesis, Neuropathy, Ichthyosis, and Keratoderma (CEDNIK) Syndrome with Brain Stem Malformation

Karunakaran, Sudhakar; Menon, Ramshekhar; Nair, Muralidharan; Nair, Sruthi S; Sundaram, Soumya

doi:10.4103/aian.aian_673_20

Cited by 3 publications

(3 citation statements)

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“…Other clinical manifestations have been described including keratoderma of both palms and soles (PPK), nystagmus, foveal hypoplasia, epicanthal folds, synophrys, long eyelashes, flaring nares, depressed nasal bridge, sensorineural deafness, seizures, hypotonia, areflexia, repetitive behavior, purposeless movements, and others. 2 , 5 , 7 , 8 Moreover, several imaging anomalies of the central nervous system have been described in CEDNIK syndrome contributing to the phenotypic variation. These includes dysgenesis of the corpus callosum, frontoparietal polymicrogyria, abnormal cortical folding, brainstem malformations, and hypoplastic intraconal optic nerves.…”

Section: Discussionmentioning

confidence: 99%

“…These includes dysgenesis of the corpus callosum, frontoparietal polymicrogyria, abnormal cortical folding, brainstem malformations, and hypoplastic intraconal optic nerves. 8 …”

Section: Discussionmentioning

confidence: 99%

“… 1 , 2 , 5 Around 22 cases of CEDNIK syndrome have been reported since 2005. 1 , 2 , 5 , 6 , 8 We describe the case of CEDNIK syndrome where patient presented with cutaneous signs that served as clues for the diagnosis.…”

Section: Introductionmentioning

confidence: 99%

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Keratoderma and ichthyosis as valuable features for the diagnosis of CEDNIK syndrome

Lorenzo-Ríos,

Guerrero-García,

Colón-Fontánez

2024

JAAD Case Reports

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Section: Discussionmentioning

confidence: 99%

“…These includes dysgenesis of the corpus callosum, frontoparietal polymicrogyria, abnormal cortical folding, brainstem malformations, and hypoplastic intraconal optic nerves. 8 …”

Section: Discussionmentioning

confidence: 99%

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Keratoderma and ichthyosis as valuable features for the diagnosis of CEDNIK syndrome

Lorenzo-Ríos,

Guerrero-García,

Colón-Fontánez

2024

JAAD Case Reports

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Congenital Ichthyosis: Clinical and Genetic Characteristics of the Disease

Мурашкин

Avetisyan

Иванов

et al. 2022

Vopr. sovr. pediatr.

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Congenital ichthyosis is a group (almost 100 clinical variants) of rare genetic skin diseases caused by pathogenic changes in more than 50 genes. Clinical features of ichthyosis, regardless of its genotype, are dry skin, peeling, hyperkeratosis frequently accompanied with erythroderma. These patients have extremely low quality of life due to changes in appearance, discomfort due to itching and functional limitations (pain during walking, impaired hands motor skills and functions due to hyperkeratosis foci in functionally relevant areas), as well as impaired functions of various organs and systems in syndromic forms of disease. Patients need daily skin care and systemic medications. By now, there is no definitive treatment for ichthyosis. Diagnostic difficulties in determining the clinical forms of congenital ichthyosis are associated with their clinical heterogeneity and with similarity in external manifestations. Difficulties in differential diagnosis with other dermatoses are particularly crucial in case of syndromic forms of disease. This review presents the modern classification of ichthyoses, provides data on disease clinical and genetic variants, diagnostic algorithms, treatment methods for patients with this severe disease.

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