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Multiple epiphyseal dysplasia tip 5: Case report a rare skeletal dysplasıa presenting with repetitive joint pain in children

INTRODUCTION AND IMPORTANCE: Multiple epiphyseal dysplasia, which affects the epiphysis of long bones, can show autosomal dominant and autosomal recessive inheritance patterns (Ballhausen et al., 2003 [1]). The symptoms typically appear in childhood, although they sometimes do not show symptoms unti...

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Autores principales: Kizilkaya, Volkan, Engin, Sami, Tunc, Ali, Tonbul, Alparslan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10139900/
https://www.ncbi.nlm.nih.gov/pubmed/37062195
http://dx.doi.org/10.1016/j.ijscr.2023.108179
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author Kizilkaya, Volkan
Engin, Sami
Tunc, Ali
Tonbul, Alparslan
author_facet Kizilkaya, Volkan
Engin, Sami
Tunc, Ali
Tonbul, Alparslan
author_sort Kizilkaya, Volkan
collection PubMed
description INTRODUCTION AND IMPORTANCE: Multiple epiphyseal dysplasia, which affects the epiphysis of long bones, can show autosomal dominant and autosomal recessive inheritance patterns (Ballhausen et al., 2003 [1]). The symptoms typically appear in childhood, although they sometimes do not show symptoms until adulthood. The goals of treatment in children are to prevent the early onset of osteoarthritis, improve function, and educate patients and their families about the natural history and genetic basis of the disease. Some patients present to the clinic with only non-healing and unidentified joint pain. Although multiple epiphyseal dysplasia type 5 is a rare disease with autosomal dominant inheritance in general, it can also be observed with de novo mutation, although very rarely, without a family history. CASE PRESENTATION: 7-years-old male patient was admitted to our orthopedics outpatient clinic with complaints of joint pain, fatigue, and pain in the knees and ankles that had lasted for about 3 years. He had epicanthus, left hemifacial microsomia, and metacarpophalangeal joint laxity. The arm was proportional to the body. In the laboratory, there was no obvious finding other than vitamin D deficiency. The epiphyses, especially in the ankle, were dysplasic on Xray. After genetic tests we detected multiple epiphyseal dysplasia type 5, with de novo mutation, without family histories. CLINICAL DISCUSSION: Multiple epiphyseal dysplasia type 5, which is usually an autosomal dominant disease (Ballhausen et al., 2003 [1]) characterized by normal height; it is seen due to heterozygous mutation of matrilin-3 gene (MATN3) at 2p24.1 location. Early-onset osteoarthritis, multiple epiphyseal dysplasia, arthralgia, small proximal femoral epiphyses, wide and short femoral neck, coxa vara, high greater trochanter, small, irregular epiphyses (distal femoral, proximal tibia, distal radius, distal ulna), mild metaphyseal irregularities (distal femoral, proximal tibia, proximal humeri, distal radius, distal ulna), genu valgum may accompany. In hands; small, irregular epiphyses (first metacarpal), delayed carpal ossification may be seen. Delayed tarsal ossification can be observed in the feet. On the other hand, some patients present to the clinic with only non-healing and unidentified joint pain. Although multiple epiphyseal dysplasia type 5 a rare disease with autosomal dominant inheritance in general, it can also be observed like our case with de novo mutation, although very rarely, without a family history. CONCLUSION: Multiple epiphyseal dysplasia type 5 is a rare disease. It should be kept in mind that skeletal dysplasia should also be evaluated, although it is rarely seen in patients with persistent joint pain. Thus, we can both slow down the progression with early diagnosis of the patient and minimize the early surgical requirements.
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spelling pubmed-101399002023-04-29 Multiple epiphyseal dysplasia tip 5: Case report a rare skeletal dysplasıa presenting with repetitive joint pain in children Kizilkaya, Volkan Engin, Sami Tunc, Ali Tonbul, Alparslan Int J Surg Case Rep Case Report INTRODUCTION AND IMPORTANCE: Multiple epiphyseal dysplasia, which affects the epiphysis of long bones, can show autosomal dominant and autosomal recessive inheritance patterns (Ballhausen et al., 2003 [1]). The symptoms typically appear in childhood, although they sometimes do not show symptoms until adulthood. The goals of treatment in children are to prevent the early onset of osteoarthritis, improve function, and educate patients and their families about the natural history and genetic basis of the disease. Some patients present to the clinic with only non-healing and unidentified joint pain. Although multiple epiphyseal dysplasia type 5 is a rare disease with autosomal dominant inheritance in general, it can also be observed with de novo mutation, although very rarely, without a family history. CASE PRESENTATION: 7-years-old male patient was admitted to our orthopedics outpatient clinic with complaints of joint pain, fatigue, and pain in the knees and ankles that had lasted for about 3 years. He had epicanthus, left hemifacial microsomia, and metacarpophalangeal joint laxity. The arm was proportional to the body. In the laboratory, there was no obvious finding other than vitamin D deficiency. The epiphyses, especially in the ankle, were dysplasic on Xray. After genetic tests we detected multiple epiphyseal dysplasia type 5, with de novo mutation, without family histories. CLINICAL DISCUSSION: Multiple epiphyseal dysplasia type 5, which is usually an autosomal dominant disease (Ballhausen et al., 2003 [1]) characterized by normal height; it is seen due to heterozygous mutation of matrilin-3 gene (MATN3) at 2p24.1 location. Early-onset osteoarthritis, multiple epiphyseal dysplasia, arthralgia, small proximal femoral epiphyses, wide and short femoral neck, coxa vara, high greater trochanter, small, irregular epiphyses (distal femoral, proximal tibia, distal radius, distal ulna), mild metaphyseal irregularities (distal femoral, proximal tibia, proximal humeri, distal radius, distal ulna), genu valgum may accompany. In hands; small, irregular epiphyses (first metacarpal), delayed carpal ossification may be seen. Delayed tarsal ossification can be observed in the feet. On the other hand, some patients present to the clinic with only non-healing and unidentified joint pain. Although multiple epiphyseal dysplasia type 5 a rare disease with autosomal dominant inheritance in general, it can also be observed like our case with de novo mutation, although very rarely, without a family history. CONCLUSION: Multiple epiphyseal dysplasia type 5 is a rare disease. It should be kept in mind that skeletal dysplasia should also be evaluated, although it is rarely seen in patients with persistent joint pain. Thus, we can both slow down the progression with early diagnosis of the patient and minimize the early surgical requirements. Elsevier 2023-04-12 /pmc/articles/PMC10139900/ /pubmed/37062195 http://dx.doi.org/10.1016/j.ijscr.2023.108179 Text en © 2023 The Authors https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Kizilkaya, Volkan
Engin, Sami
Tunc, Ali
Tonbul, Alparslan
Multiple epiphyseal dysplasia tip 5: Case report a rare skeletal dysplasıa presenting with repetitive joint pain in children
title Multiple epiphyseal dysplasia tip 5: Case report a rare skeletal dysplasıa presenting with repetitive joint pain in children
title_full Multiple epiphyseal dysplasia tip 5: Case report a rare skeletal dysplasıa presenting with repetitive joint pain in children
title_fullStr Multiple epiphyseal dysplasia tip 5: Case report a rare skeletal dysplasıa presenting with repetitive joint pain in children
title_full_unstemmed Multiple epiphyseal dysplasia tip 5: Case report a rare skeletal dysplasıa presenting with repetitive joint pain in children
title_short Multiple epiphyseal dysplasia tip 5: Case report a rare skeletal dysplasıa presenting with repetitive joint pain in children
title_sort multiple epiphyseal dysplasia tip 5: case report a rare skeletal dysplasıa presenting with repetitive joint pain in children
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10139900/
https://www.ncbi.nlm.nih.gov/pubmed/37062195
http://dx.doi.org/10.1016/j.ijscr.2023.108179
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