Multiple epiphyseal dysplasia (MED) is a congenital disease causing epiphyseal dysplasia in long bones. Herein, we report a case of a middle-aged man with bilateral knee joint locking symptoms who was diagnosed with multiple epiphyseal dysplasia caused by Matrilin-3 (MATN3) pathogenic variants and was successfully treated with arthroscopic loose body removal. A 48-year-old man has had bilateral knee pain since his twenties and underwent loose body removal of both knees in his thirties. He visited our hospital for worsening locking symptoms in both knees. Twenty years ago, his son had been diagnosed with suspected multiple epiphyseal dysplasia. Genetic and imaging testing confirmed his diagnosis of multiple epiphyseal dysplasia due to Matrilin-3 pathogenic variants. Arthroscopic loose body removal was performed, and the locking symptoms disappeared after surgery. Arthroscopic loose body removal was effective for the locking symptoms in a mild adult case of multiple epiphyseal dysplasias caused by Matrilin-3 pathogenic variants.

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BACKGROUND: Multiple epiphyseal dysplasia (MED) is a rare congenital bone dysplasia. Patients with MED develop secondary hip osteoarthritis as early as the third to the fourth decade. Currently, there is no consensus on the prevention of the progressive hip osteoarthritis secondary to MED. The Bernese periacetabular osteotomy (PAO) is a joint-preserving surgery to reshape acetabulum and extend femoral head coverage. However, there is no documentary evidence for the effect of the procedure on MED hips.
METHODS: We analyzed the preliminary outcomes following the Bernese PAO in 6 MED hips. The average age at the time of surgery was 14.3 years (range from 11.4 to 17.2 years). For our study interest of time efficiency, radiographic parameters were analyzed preoperatively and 1 year postoperatively. The hip function was evaluated by the Harris Hip Score (HHS) before and after surgery.
RESULTS: The mean follow-up time was 1.7 years. The mean lateral center-edge angle increased from 3.8° to 47.1° (p = 0.02), anterior center-edge angle increased from 7.3° to 35.1° (p = 0.02), and acetabulum index decreased from 27.8° to 14.6° (p = 0.04). The femoral head coverage ratio increased from 66.8% to 100% (p = 0.02). The post-operative anteroposterior pelvic radiograph demonstrated all preoperative broken Shenton lines were reversed. The mean HHS improved from 67.3 to 86.7 (p = 0.05).
CONCLUSIONS: Bernese PAO is a feasible treatment for hip disorders in MED patients. It reshapes acetabular and femoral morphology efficiently. In our study, the preliminary results showed the procedure not only improved radiographic outcomes but also hip function.

UNASSIGNED: Onychodystrophy has been described in association with certain bone disorders, including Nail-Patella Syndrome, Hutchinson-Gilford Progeria Syndrome, Coffin-Siris Syndrome, and congenital brachydactyly. However, nail changes associated with multiple epiphyseal dysplasia (MED) has not been documented.
UNASSIGNED: An 11-year-old male with history of MED presented with thickened, dystrophic appearing fingernails. Physical examination was significant for fingernail longitudinal ridges and grooves, thinning, and distal splitting. Dermoscopy revealed superficial desquamation. Nail clippings were negative for microbial pathogens. Hand X-rays showed brachydactyly, shortening of the metacarpals, and sclerotic epiphyses of the bilateral 5th distal phalanges and right 2nd distal phalanx.
UNASSIGNED: This is the first documented case of MED with onychodystrophy, supporting the link between phalangeal formation and nail development. It is important to perform a careful examination of the nail units in patients with skeletal dysplasia and screen patients with characteristic and unexplained nail changes for bony changes. Living with skeletal disease is extremely challenging, and treatment of associated nail disease can improve quality of life for these patients.

OBJECTIVE: Multiple epiphyseal dysplasia (MED) and spondyloepiphyseal dysplasia (SED) are skeletal dysplasias associated with premature osteoarthritis and short stature. Patients with SED often have spinal and ocular problems. Few reports have focused on the health-related quality of life (HRQoL) of patients with skeletal dysplasias associated with premature osteoarthritis. The purpose of this study was to evaluate the HRQoL of adult patients with MED and SED.
METHODS: Questionnaires covering demographics, medical history (cataract, retinal detachment, and osteoarthritis), surgical history (osteotomy and arthroplasty), and the Short Form-36 (SF-36) health survey were sent to all patients with MED and SED with medical records at the investigators\' institutions. Among the 27 patients who completed the questionnaire, patients aged 20 years or older were included in this cohort.
RESULTS: The subjects were 18 affected individuals. The physical component summary score (PCS) was significantly lower in the MED and SED groups than in the normal population and tended to deteriorate with age. Conversely, there was a positive correlation between the mental component summary score and age. The role/social component summary score was not correlated with age. MED patients with osteoarthritis had a low PCS. PCS was particularly low in two SED patients with a medical history of cataract, whereas there was no association with a history of retinal detachment or osteoarthritis.
CONCLUSIONS: The physical domain of HRQoL in MED and SED patients significantly deteriorated at a young age. Appropriate medical management of these skeletal dysplasias is required not only for orthopedic functions but also for ocular problems.

Multiple epiphyseal dysplasia (MED) is a phenotypically heterogeneous disease associated with orthopedic abnormalities among other systemic manifestations. While the spectrum of ocular abnormalities in this disorder is yet to be fully reported, MED has been rarely associated in the literature with the development of cataracts and keratoconus. Here, we report a case of bilateral massager-induced anterior subcapsular cataracts and keratoconus in a 46-year-old female with MED. This case presentation aims to prevent similar occurrences of inappropriate massaging device use and highlight potential ocular findings in MED patients.

We report a probable case of multiple skeletal dysplasia observed in a Late Iron Age young adult male.
The individual studied belongs to a Late Iron Age necropolis from Switzerland. The skeletal elements are well preserved METHODS: Macroscopic and radiographic assessment.
The individual shows evidence of both craniofacial and mandibular deformation. Developmental defects are also visible with effects on the general shape and articular surfaces of both humeri, as well as the left femur and tibia.
We propose that the lesions observed are manifestations of skeletal dysplasia, such as pseudo-achondroplasia or multiple epiphyseal dysplasia.
This is the first recorded case of multiple skeletal dysplasia in an Iron Age necropolis in Switzerland, questioning the integration of physically compromised individuals in La Tène society.
Examination of other skeletal dysplasias from archaeological contexts provides support for this diagnosis.
The integration of individuals with disabilities in La Tène societies is still poorly understood and further research is needed to better characterize these communities.

Diastrophic dysplasia (DTD) is a rare osteochondrodysplasia characterized by short-limbed short stature and joint dysplasia. DTD is caused by mutations in SLC26A2 and is particularly common in the Finnish population. However, the disease incidence in Finland and clinical features in affected individuals have not been recently explored. This registry-based study aimed to investigate the current incidence of DTD in Finland, characterize the national cohort of pediatric subjects with DTD and review the disease-related literature. Subjects with SLC26A2-related skeletal dysplasia, born between 2000 and 2020, were identified from the Skeletal dysplasia registry and from hospital patient registry and their clinical and molecular data were reviewed. Fourteen subjects were identified. Twelve of them were phenotypically classified as DTD and two, as recessive multiple epiphyseal dysplasia (rMED). From the subjects with available genetic data, 75% (9/12) were homozygous for the Finnish founder mutation c.-26+2T>C. Two subjects with rMED phenotype were compound heterozygous for p.Arg279Trp and p.Thr512Lys variants. The variable phenotypes in our cohort highlight the wide spectrum of clinical features, ranging from a very severe form of DTD to milder forms of DTD and rMED. The incidence of DTD in Finland has significantly decreased over the past decades, most likely due to increased prenatal diagnostics.

RPL13-related disorder is a newly described skeletal dysplasia characterized as a form of spondyloepimetaphyseal dysplasia with normal birth length, early postnatal growth deficiency, severe short stature, and genu varum. We present a 9-year-old male with a history of lower leg pain and concern for an unspecified form of multiple epiphyseal dysplasia (MED). Exome sequencing revealed a de novo heterozygous RPL13 c.477+1G>A (IVS4+1G>A) pathogenic variant. This is the first identified case of an individual with an RPL13-related skeletal dysplasia, normal height, and radiographs consistent with a form of MED and Legg-Calve-Perthes-like disease. This case expands the phenotype of RPL13-related disorders.

Multiple epiphyseal dysplasia (MED) is a skeletal disorder characterized by delayed and irregular ossification of the epiphyses and early-onset osteoarthritis. At least 66% of the reported autosomal dominant MED (AD-MED) cases are caused by COMP mutations.
We recruited a four-generation Chinese family with early-onset hip osteoarthritis, flatfoot, brachydactyly, and mild short stature. An assessment of the family history, detailed physical examinations, and radiographic evaluations were performed on the proband and other family members, followed by the performance of whole-exome sequencing (WES). The pathogenicity of the candidate mutation was also analyzed.
An AD-MED family with 10 affected members and 17 unaffected members was recruited. The main radiographic findings were symmetrical changes in the dysplastic acetabulum and femoral heads, irregular contours of the epiphyses, a shortened femoral neck, and flatfoot. Lower bone density was also observed in the ankle joints, wrist joints, and knees, as well as irregular vertebral end plates. In the proband, we identified the missense mutation c.1153G > T (p. Asp385Tyr), located in exon 11 of the COMP gene. This mutation was assessed as \'pathogenic\' because of its low allele frequency and its high likelihood of co-segregation with disease in the reported family. Sanger sequencing validated the novel heterozygous mutation c.1153G > T (p. Asp385Tyr) in exon 11 of COMP in all affected individuals in the family.
Our results underlined a key role of the Asp385 amino acid in the protein function of COMP and confirmed the pathogenicity of the COMP (c.1153G > T; p. Asp385Tyr) mutation in AD-MED disease. We have therefore expanded the known mutational spectrum of COMP and revealed new phenotypic information for AD-MED.