Article ; Online: Rothmund-Thomson syndrome: a case series from a tertiary pediatric hospital in Mexico.
Boletin medico del Hospital Infantil de Mexico
2022 Volume 79, Issue 1, Page(s) 56–61
Abstract: Background: Rothmund-Thomson syndrome, also known as congenital poikiloderma, is a rare autosomal recessive genodermatosis with onset in early childhood that affects at a multisystem level.: Case reports: Case 1. A 4-year-old male patient, ... ...
Title translation | Síndrome de Rothmund-Thomson: serie de casos de un hospital pediátrico de tercer nivel en México. |
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Abstract | Background: Rothmund-Thomson syndrome, also known as congenital poikiloderma, is a rare autosomal recessive genodermatosis with onset in early childhood that affects at a multisystem level. Case reports: Case 1. A 4-year-old male patient, consanguineous parents, 26-year-old brother with a probable diagnosis of Rothmund-Thompson syndrome. He presented with adactyly of the right thumb, hypoplasia of the left thumb, delayed growth and psychomotor development. At 3 months, he presented rough, dry, sparse hair and erythematous lesions on the face, leaving hyperpigmented and hypopigmented spots with a reticulated pattern. We detected hypoacusis, skeletal alterations, narrow chin, short stature, severe malnutrition, and chronic and asymptomatic hypodontia. Genetic sequencing showed a mutation for the RECQL4 gene, for which a multidisciplinary follow-up was provided by the genetics, gastroenterology, nutrition, endocrinology, stomatology, audiology, orthopedics, rehabilitation, ophthalmology and oncology services. Case 2. A 2-year-old female patient presented facial erythema that spread to the arms and legs at 3 months; skin biopsy showed poikiloderma. She was evaluated by the endocrinology service and followed up for short stature and hypogonadism. A genetic study was not performed. Conclusions: Rothmund-Thomson syndrome is characterized by atrophy. Only a few cases are reported in the literature. We present two cases of Rothmund-Thomson syndrome, emphasizing its clinical and dermatological characteristics. |
MeSH term(s) | Adult ; Child ; Child, Preschool ; Female ; Hospitals, Pediatric ; Humans ; Male ; Mexico ; Mutation ; Rothmund-Thomson Syndrome/diagnosis ; Rothmund-Thomson Syndrome/genetics ; Rothmund-Thomson Syndrome/pathology |
Language | English |
Publishing date | 2022-01-25 |
Publishing country | Mexico |
Document type | Case Reports ; Journal Article |
ZDB-ID | 730519-9 |
ISSN | 1665-1146 ; 1665-1146 ; 0539-6115 ; 0539-6123 |
ISSN (online) | 1665-1146 |
ISSN | 1665-1146 ; 0539-6115 ; 0539-6123 |
DOI | 10.24875/BMHIM.21000013 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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