X-Linked Dominant Chondrodysplasia Punctata (original) (raw)
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Clinical variation in X-linked dominant chondrodysplasia punctata (X-linked dominant ichthyosis)
British Journal of Dermatology, 2006
Chondrodysplasia punctata is a heterogeneous group of skeletal dysplasias characterized by an anomaly of enchondral bone formation causing stippled calcifications that can be visualized radiologically or sonographically. The X-linked dominant form (Conradi-Hünermann-Happle syndrome, CDPX2) occurs almost exclusively in women and is characterized by asymmetrical limb shortening and cataract as well as a transitory congenital dermatosis presenting as generalized erythroderma with segmental lesions of prominent follicular keratosis. Later, this congenital dermatosis regresses and leaves behind patchy or segmental atrophic skin lesions, mainly follicular atrophoderma. Scarring alopecia is often present. A diffuse, moderate ichthyotic scaling may persist. 1,2 The EBP gene, coding for a D 8 ,D 7-sterol isomerase involved in cholesterol biosynthesis, was identified as the gene mutated in CDPX2. 3,4 To date, at least 45 disease-causing mutations have been reported. The mutation spectrum included 15 nonsense, 16 missense, two deletion, seven frameshift, two splice-site and three intronic mutations, distributed among the five exons as well as introns of the EBP gene, with a majority of mutations encountered in exons 2 and 4. Here we discuss the molecular and clinical correlation of three cases of CDPX2, including a new mutation.
Adult Presentation of X-Linked Conradi-Hünermann-Happle Syndrome
Conradi-Hünermann-Happle syndrome, or X-linked dominant chondrodysplasia punctata type 2 (CDPX2), is a genodermatosis caused by mutations in EBP. While typically lethal in males, females with CDPX2 generally manifest by infancy or childhood with variable features including congenital ichthyosiform eryth-roderma, chondrodysplasia punctata, asymmetric shortening of the long bones, and cataracts. We present a 36-year-old female with short stature, rhizomelic and asymmetric limb shortening, severe scoliosis, a sectorial cataract, and no family history of CDPX2. Whole exome sequencing (WES) revealed a p.Arg63del mutation in EBP, and biochemical studies confirmed a diagnosis of CDPX2. Short stature in combination with ichthyosis or alopecia, cataracts, and limb shortening in an adult should prompt consideration of a diagnosis of CDPX2. As in many genetic syndromes, the hallmark features of CDPX2 in pediatric patients are not readily identifiable in adults. This demonstrates the utility of WES as a diagnostic tool in the evaluation of adults with genetic disorders.
A Case Report of Rhizomelic Chondrodysplasia Punctata
International Journal of Health Sciences and Research, 2015
The authors present a case of a 5 year old, male child born out of 3 rd degree consanguineous marriage affected by the recessive form of chondrodysplasia punctata, a rare condition radiologically characterized by severe proximal shortening and anomalous ossification (epiphyseal stippling) of limbs. Clinical and radiological findings as well as main differential diagnoses are emphasized on the basis of data originating from a brief literature review.
Rhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India
Journal of Applied Genetics, 2010
Rhizomelic chondrodysplasia punctata is a rare autosomal recessive disorder characterized by stippled epiphyses and rhizomelic shortening of the long bones. We report 3 subjects of rhizomelic chondrodysplasia punctata from India and the PEX7 mutations identified in them. The common PEX7-L292X allele, whose high frequency is due to a founder effect in the northern European Caucasian population, was not identified in these patients. Instead, 2 novel alleles are described, including 64_65delGC, which was present on a single PEX7 haplotype and could represent a common allele in the Indian population.
Cureus, 2021
Rhizomelic chondrodysplasia punctata (RCDP) is a devastating medical condition for patients and their families. It is a rare peroxisomal autosomal recessive disorder. It was recognized clinically with skeletal abnormalities and intellectual disabilities mainly due to plasmalogen deficiency. Here, we report a case of a 16-day-old girl who was referred to King Abdulaziz Medical City Jeddah, Saudi Arabia because of dysmorphic features. Her growth parameters were below the 3rd centile with short proximal long bones and multiple joint contractures in the extremities. The radiographs showed rhizomelic and shortening of both humeri and femurs. Moreover, punctate ossification was identified in the upper spine, humeri around the shoulders, and femurs around the knees. We observed other classical features, and the genetic testing confirmed the diagnosis of RCDP type 3. Although RCDP is a rare condition, it is a distressing burden necessitating early diagnosis and a holistic approach for manag...