The diagnostic dilemma of rothmund-thomson syndrome Type II: A rare disorder with a novel mutation in the RECQL4 gene in an Indian Boy
Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder caused by homozygous or compound heterozygous mutations in RECQL4 gene and has characteristic clinical features of poikiloderma, congenital bone defects, gastrointestinal disturbances such as chronic diarrhea and vomiting, and an...
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2022-01-01
|
| Series: | Indian Journal of Paediatric Dermatology |
| Subjects: | |
| Online Access: | http://www.ijpd.in/article.asp?issn=2319-7250;year=2022;volume=23;issue=4;spage=322;epage=324;aulast=Goyal |
| _version_ | 1798020521809412096 |
|---|---|
| author | Manisha Goyal Lalit Bharadia Ashok Gupta Udhaya H Kotecha |
| author_facet | Manisha Goyal Lalit Bharadia Ashok Gupta Udhaya H Kotecha |
| author_sort | Manisha Goyal |
| collection | DOAJ |
| description | Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder caused by homozygous or compound heterozygous mutations in RECQL4 gene and has characteristic clinical features of poikiloderma, congenital bone defects, gastrointestinal disturbances such as chronic diarrhea and vomiting, and an increased susceptibility to malignancy. A 2½-year-old Indian boy presented with reticulate hyperpigmented erythema with superimposed hypopigmented atrophic macular lesions over the cheeks and diffuse background hyperpigmentation with multiple discrete atrophic hypopigmented macules of variable size over the abdomen and extensor aspects of the forearms. X-rays suggested metaphyseal irregularity around knee joint and radioulnar synostosis. Whole-exome sequencing was suggestive of a de novo novel RECQL4 gene mutation causing RTS Type II. There is an overlapping of clinical features of the group of syndrome associated with skin lesions, skeletal, and gastric manifestations. All these conditions present a challenge to the clinician. Thus, molecular diagnosis is the only way to resolve these phenotypically similar conditions. This report expands the RECQL4 gene pathogenic mutations spectrum. |
| first_indexed | 2024-04-11T16:58:58Z |
| format | Article |
| id | doaj.art-52f1981c201740c4854bb3d0454609aa |
| institution | Directory Open Access Journal |
| issn | 2319-7250 |
| language | English |
| last_indexed | 2024-04-11T16:58:58Z |
| publishDate | 2022-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Indian Journal of Paediatric Dermatology |
| spelling | doaj.art-52f1981c201740c4854bb3d0454609aa2022-12-22T04:13:11ZengWolters Kluwer Medknow PublicationsIndian Journal of Paediatric Dermatology2319-72502022-01-0123432232410.4103/ijpd.ijpd_149_21The diagnostic dilemma of rothmund-thomson syndrome Type II: A rare disorder with a novel mutation in the RECQL4 gene in an Indian BoyManisha GoyalLalit BharadiaAshok GuptaUdhaya H KotechaRothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder caused by homozygous or compound heterozygous mutations in RECQL4 gene and has characteristic clinical features of poikiloderma, congenital bone defects, gastrointestinal disturbances such as chronic diarrhea and vomiting, and an increased susceptibility to malignancy. A 2½-year-old Indian boy presented with reticulate hyperpigmented erythema with superimposed hypopigmented atrophic macular lesions over the cheeks and diffuse background hyperpigmentation with multiple discrete atrophic hypopigmented macules of variable size over the abdomen and extensor aspects of the forearms. X-rays suggested metaphyseal irregularity around knee joint and radioulnar synostosis. Whole-exome sequencing was suggestive of a de novo novel RECQL4 gene mutation causing RTS Type II. There is an overlapping of clinical features of the group of syndrome associated with skin lesions, skeletal, and gastric manifestations. All these conditions present a challenge to the clinician. Thus, molecular diagnosis is the only way to resolve these phenotypically similar conditions. This report expands the RECQL4 gene pathogenic mutations spectrum.http://www.ijpd.in/article.asp?issn=2319-7250;year=2022;volume=23;issue=4;spage=322;epage=324;aulast=Goyalhyperpigmented lesionmetaphyseal irregularitiespoikilodermarecql4 generothmund-thomson syndrome |
| spellingShingle | Manisha Goyal Lalit Bharadia Ashok Gupta Udhaya H Kotecha The diagnostic dilemma of rothmund-thomson syndrome Type II: A rare disorder with a novel mutation in the RECQL4 gene in an Indian Boy Indian Journal of Paediatric Dermatology hyperpigmented lesion metaphyseal irregularities poikiloderma recql4 gene rothmund-thomson syndrome |
| title | The diagnostic dilemma of rothmund-thomson syndrome Type II: A rare disorder with a novel mutation in the RECQL4 gene in an Indian Boy |
| title_full | The diagnostic dilemma of rothmund-thomson syndrome Type II: A rare disorder with a novel mutation in the RECQL4 gene in an Indian Boy |
| title_fullStr | The diagnostic dilemma of rothmund-thomson syndrome Type II: A rare disorder with a novel mutation in the RECQL4 gene in an Indian Boy |
| title_full_unstemmed | The diagnostic dilemma of rothmund-thomson syndrome Type II: A rare disorder with a novel mutation in the RECQL4 gene in an Indian Boy |
| title_short | The diagnostic dilemma of rothmund-thomson syndrome Type II: A rare disorder with a novel mutation in the RECQL4 gene in an Indian Boy |
| title_sort | diagnostic dilemma of rothmund thomson syndrome type ii a rare disorder with a novel mutation in the recql4 gene in an indian boy |
| topic | hyperpigmented lesion metaphyseal irregularities poikiloderma recql4 gene rothmund-thomson syndrome |
| url | http://www.ijpd.in/article.asp?issn=2319-7250;year=2022;volume=23;issue=4;spage=322;epage=324;aulast=Goyal |
| work_keys_str_mv | AT manishagoyal thediagnosticdilemmaofrothmundthomsonsyndrometypeiiararedisorderwithanovelmutationintherecql4geneinanindianboy AT lalitbharadia thediagnosticdilemmaofrothmundthomsonsyndrometypeiiararedisorderwithanovelmutationintherecql4geneinanindianboy AT ashokgupta thediagnosticdilemmaofrothmundthomsonsyndrometypeiiararedisorderwithanovelmutationintherecql4geneinanindianboy AT udhayahkotecha thediagnosticdilemmaofrothmundthomsonsyndrometypeiiararedisorderwithanovelmutationintherecql4geneinanindianboy AT manishagoyal diagnosticdilemmaofrothmundthomsonsyndrometypeiiararedisorderwithanovelmutationintherecql4geneinanindianboy AT lalitbharadia diagnosticdilemmaofrothmundthomsonsyndrometypeiiararedisorderwithanovelmutationintherecql4geneinanindianboy AT ashokgupta diagnosticdilemmaofrothmundthomsonsyndrometypeiiararedisorderwithanovelmutationintherecql4geneinanindianboy AT udhayahkotecha diagnosticdilemmaofrothmundthomsonsyndrometypeiiararedisorderwithanovelmutationintherecql4geneinanindianboy |