Dysplasia Epiphysialis Punctata – Epiphyses, Stippled – Stippled Español: Condrodisplasia Punctata, – Condrodistrofia Calcificante Congénita – Displasia. MalaCards integrated aliases for Condrodisplasia Punctata Rizomélica: Name: Condrodisplasia Punctata Rizomélica. Classifications: MalaCards categories. Request PDF on ResearchGate | Condrodisplasia punctata de Conradi- Hünermann: implicaciones anestésicas | Chondrodysplasia punctata syndrome is a.
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Orphanet: Condrodisplasia punctata tipo rizomelico
Only comments written in English can be processed. X-linked dominant chondrodysplasia punctata CDPX2 is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata CDPasymmetric shortening of the limbs, cataracts and short stature. Erythema is usually generalized while hyperkeratotic scales generally follow Blaschko’s lines and tend to fade during a period of weeks to months. Hyperkeratosis, especially involving hair follicles, and late atrophy appear at sites of previous condrodisplwsia, typically in a follicular pattern atrophoderma vermiculata; see this term.
Follicular atrophoderma is particularly common on the condroddisplasia, forearms and dorsal aspect of the hands. Patchy areas of cicatricial alopecia are common. Asymmetric shortening of the limbs, usually affecting the humerus and femur, together with CDP, are the most common skeletal abnormalities. Facial dysmorphism low nasal bridge, frontal bossing, hypertelorism, high arched palate is common. Joint contractures affecting the hips, hands and feet are frequent.
Talus valgus and other deformities may be seen. punctaa
The vertebral column exhibits moderate to severe scoliosis and short stature is common. Microphthalmia, microcornea and epicanthus have been reported. A deficiency in EBP leads to the accumulation of 8-dehydrocholesterol 8DHC and 8 9 -cholestenol in the skin, plasma and other body tissues. Diagnosis of CDPX2 relies on clinical, biochemical and genetic tests.
CDP, usually consisting of epiphyseal stippling, is the fundamental radiological finding. Biochemical analyses show increased levels of 8 9 cholestenol and 8-dehydrocholesterol.
Molecular testing for EBP mutations confirms diagnosis. Prenatal diagnosis and preimplantation genetic diagnosis may be punctwta option for families with a known disease-causing mutation. CDPX2 is inherited in an X-linked dominant manner and genetic counseling is possible.
Somatic mosaicism in the father or de novo mutations can explain the occurrence of offspring with CDPX2 when no mutations are found in the mother.
Germline mosaicism and anticipation has also been reported in families with CDPX2.
In most cases it is lethal in males. Treatment of skin lesions includes the use of emollients and keratolytics i.
Topical administration of lovastatin and cholesterol may be beneficial for ichthyosis. Orthopedic management and surgery may be necessary in those with bone deformities. Cataracts should be extracted and vision correction devices provided. Physical, occupational and speech therapies may be necessary. condrodisplqsia
Regular follow-up with dermatologists and ophthalmologists and orthopedic evaluations are recommended. Hearing aids may be needed.
There is usually no effect on life-expectancy rarely scoliosis can compromise cardiac and pulmonary function but quality of life may be severely affected. Other search option s Alphabetical list. Summary and related texts. Check this box if you wish to receive a copy of your message. Disease definition X-linked dominant chondrodysplasia punctata CDPX2 is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata CDP cojdrodisplasia, asymmetric shortening of the limbs, cataracts and short stature.
InfancyNeonatal ICD Clinical description ‘Congenital ichthyosiform erythroderma is the typical neonatal manifestation. Genetic counseling CDPX2 is inherited in an X-linked dominant manner and genetic counseling is possible.
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Management and treatment Management is multidisciplinary. Punftata There is usually no effect on life-expectancy rarely scoliosis can compromise cardiac and pulmonary function but quality of life may be severely affected. Detailed information Article for general public Svenska Professionals Summary information Polskipdf Condrodisplasuapdf Suomipdf Practical genetics Englishpdf Clinical genetics review English Additional information Further information on this disease Classification s 7 Gene s 1 Clinical signs and symptoms Publications in PubMed Other website s 8.
Health care resources for this disease Expert centres Diagnostic tests 45 Patient organisations 60 Orphan drug s 1.
Condrodisplasia punctata rizomélica: relato de caso e breve revisão da literatura
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