Mutation analysis in a pedigree with Rothmund-Thomson syndrome / 中华皮肤科杂志

Objective@#To detect gene mutations in a pedigree with Rothmund-Thomson syndrome (RTS) .@*Methods@#Clinical data were collected from two patients (an older sister and a younger brother) and their family members in a Chinese pedigree of Han nationality with RTS. Blood samples were obtained from the two patients, their unaffected older brother, their parents and 100 unrelated healthy controls. DNA was extracted, and all the exons in the encoding area of the RECQL4 gene were amplified by PCR. Gene mutations were detected by a skin-targeted next-generation sequencing panel, and verified by Sanger sequencing.@*Results@#Two heterozygous mutations were identified in the RECQL4 gene of the two patients, including a splice site mutation c.2886-1G>A and an insertion mutation c.1013_1014insC, which were inherited from the father and mother of the patients respectively. Meanwhile, neither of the two mutations was observed in 100 unrelated healthy controls or the older brother of the patients.@*Conclusion@#The splice site mutation c.2886-1G>A and the insertion mutation c.1013_1014insC in the RECQL4 gene may contribute to the clinical phenotype of the patients in this pedigree with RTS.

Mutation analysis in a pedigree with Rothmund-Thomson syndrome / 中华皮肤科杂志

Objective To detect gene mutations in a pedigree with Rothmund-Thomson syndrome (RTS).Methods Clinical data were collected from two patients (an older sister and a younger brother)and their family members in a Chinese pedigree of Han nationality with RTS.Blood samples were obtained from the two patients,their unaffected older brother,their parents and 100 unrelated healthy controls.DNA was extracted,and all the exons in the encoding area of the RECQL4 gene were amplified by PCR.Gene mutations were detected by a skin-targeted next-generation sequencing panel,and verified by Sanger sequencing.Results Two heterozygous mutations were identified in the RECQL4 gene of the two patients,including a splice site mutation c.2886-1G＞A and an insertion mutation c.1013_1014insC,which were inherited from the father and mother of the patients respectively.Meanwhile,neither of the two mutations was observed in 100 unrelated healthy controls or the older brother of the patients.Conclusion The splice site mutation c.2886-1G＞A and the insertion mutation c.1013_1014insC in the RECQL4 gene may contribute to the clinical phenotype of the patients in this pedigree with RTS.

Rothmund-Thomson syndrome and ocular surface findings: case reports and review of the literature / Síndrome de Rothmund-Thomson e achados da superfície ocular: casos clínicos e revisão da literatura

ABSTRACT Rothmund-Thomson syndrome (RTS) is a rare dermatosis with about 300 cases reported to date. The authors describe two siblings with RTS and inflammatory conjunctival disease featuring fornix shortening and symblepharon as well as palpebral disease with sparse eyelashes. These cases demonstrate RTS ocular surface findings different to those usually described.

RESUMO A síndrome de Rothmund-Thomson (SRT) é uma dermatose rara com cerca de 300 casos reportados. Os autores descrevem dois irmãos com síndrome de Rothmund-Thomson e doença inflamatória conjuntival com encurtamento do fundo de saco e simbléfaro, assim como doença palpebral com escassez de cilíos. Ambos os casos demonstram achados da superfície ocular diferentes dos habitualmente descritos.

Síndrome de Rothmund / Rothmund syndrome

RESUMO A síndrome de Rothmund (RTS) é uma rara genodermatose, de herança autossômica recessiva. Sua incidência é desconhecida, com aproximadamente 300 casos descritos na literatura. A síndrome é determinada por eritema facial (poiquilodermia), seu marco diagnóstico, além de alterações esqueléticas, alopecia, catarata juvenil e predisposição a osteossarcoma. Neste relato, descrevemos uma paciente com esta síndrome, que foi referida ao serviço de oftalmologia por baixa visão e hiperemia ocular.

ABSTRACT Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive genodermatosis. While its incidence is unknown, approximately 300 cases have been reported in the literature. The syndrome typically presents with a characteristic facial rash (poikiloderma), its diagnostic hallmark, and heterogeneous clinical features including congenital skeletal abnormalities, sparse hair distribution, juvenile cataracts, and a predisposition to osteosarcoma. This is a report describing a patient diagnosed with RTS referred to us because of low vision and red eyes.

Síndrome de Rothmund-Thomson tipo I: comunicación de un caso en población colombiana y revisión de la literatura / Rothmund-Thomson type I syndrome: a case report in colombian poblation and review of the literature

El síndrome de Rothmund-Thomson (SRT) es una genodermatosis autosómica recesiva, que se presenta con poiquilodermia congénita, causada por mutaciones en el gen RECQL4. La poiquilodermia congénita se caracteriza por erupción cutánea, atrofia de la piel y lesiones telangiectásicas con áreas de hiperpigmentación o despigmentación. El SRT se asocia a baja talla, pestañas, cejas y pelo del cuero cabelludo escasos, anormalidades esqueléticas, envejecimiento prematuro, fotosensibilidad, distrofia ungueal y predisposición a cánceres de piel y hueso. Se describe el caso de un paciente con síndrome de Rothmund-Thomson tipo I.

Rothmund-Thomson syndrome (RTS) is an autosomal recessive genodermatosis presenting with congenital poikiloderma, caused by mutations in the RECQL4 gene. Congenital poikiloderma, is characterized by: cutaneous rash, skin atrophy and telangiectasic lesions with areas of hyperpigmentation or depigmentation. RTS is associated with short stature, sparse eyelashes, sparse eyebrows and sparse scalp hair, skeletal abnormalities, premature aging, photosensitivity, ungueal dystrophy and predisposition to skin and bone cancers. Here we report the case of a patient with Rothmund-Thomson syndrome type I.

Síndrome de Cutis Marmorata Telangiectásica Congénita o Síndrome de Rothmund-Thompson

Objetivos: Presentar el caso de un síndrome muy raro, el Síndrome de Rothmund-Thomson, de herencia autosómica recesiva, atribuible a una mutación en el gen RECQL4 helicase, 8q24. Se caracteriza por la presencia de placas cutáneas reticuladas, atróficas, hiperpigmentadas, telangiectásicas, que a menudo se acompañan de catarata juvenil, nariz en silla de montar, defectos óseos congénitos, trastornos en el crecimiento del cabello, uñas, dientes, hipotiroidismo, talla baja e hipogonadismo. Caso clínico: Paciente femenina de 12 años que consulta por talla baja. Antecedentes personales y familiares sin importancia. La familia ha notado cambios cutáneos en la piel desde poco después del nacimiento. La niña tiene un retraso escolar importante. Al examen físico presenta talla 124 cm, peso 21 kg, ambos muy por debajo del percentil 3 para su edad y sexo. Facies de cara de pájaro, piel pálida con telangiectasias rojas en telaraña en cara, brazos y abdomen, alopecia difusa, paladar ojival, atrofia cutánea en manos y atrofia de uñas, dientes irregulares y malformados, incisivos proyectados hacia delante. Presenta bocio difuso grado Ib, telarquia estadío II de Tanner (botón mamario) y no hay pubarquia. Edad ósea de 10 años. Con los exámenes de laboratorio se diagnostica hipotiroidismo primario y se indica tratamiento con 50 μg de levotiroxina sódica. En el seguimiento a los 3 meses se nota crecimiento de 2 cms y normalización de TSH. Evaluación oftalmológica sin alteraciones. Dada la presentación clínica y la evolución de la paciente, se establece el diagnóstico de Síndrome de Rothmund Thomson. Conclusiones: El síndrome de Rothmund Thompson es una entidad clínica poco frecuente, asociada con una amplia gama de alteraciones endocrinas, por lo cual consideramos importante reportar este caso.

Objectives: To present the case of a rare syndrome, the Rothmund-Thomson syndrome, autosomal recessive, attributable to a mutation in the RECQL4 helicase gene, 8q24. It is characterized by reticulate skin plaques, atrophic, hyperpigmented, telangiectatic, often accompanied by juvenile cataracts, saddle nose, congenital bone defects, disturbances in the growth of hair, nails, teeth, hypothyroidism, short stature and hypogonadism. Clinical case: A twelve year old girl came to the clinic because of short stature. Her personal and family history was unremarkable. Her parents noticed skin changes few days after birth. She has a delay in her school performance. Physical exam: height: 124cm, weight: 21kg, both below the third percentile for her age and sex; a bird face appearance. Skin pale with red spider thelangiectasias in the face, arms and abdomen. Generalized alopecia. Arched palate. There was skin and nail atrophy in both hands, irregular and malformed teeth and incisors projected forward. Goiter grade Ib, breasts with budding tanner stage II, there was no pubic hair. Bone age of 10 years. Laboratory tests: a diagnosis of primary hypothyroidism was made. She was started on L-Thyroxine 50 micrograms daily with an increase of 2cm when she came back three months later. An ophthalmological evaluation was normal. With the above clinical findings and clinical course we conclude that she has the Rothmund-Thomson Syndrome. Conclusions: The Rothmund Thompson syndrome is a rare clinical entity associated with a wide range of endocrine disruption, so we consider it is important to report this case.

Mutation analysis in RECQL4 gene in a patient with Rothmund-Thomson syndrome / 中华皮肤科杂志

Objective To detect the mutations in RECQL4 gene in a Chinese patient with Rothmund- Thomson syndrome (RTS). Methods Blood samples were collected from a sporadic patient with RTS, his unaffected parents and 30 unrelated population-matched controls. DNA was extracted, and all the coding sequences of RECQL4 gene were amplified by PCR. Direct sequencing was performed with the amplicons to detect the possible mutations in these subjects. Results Two mutations, i.e., IVS11-1G > A and 3401 A >T, which resulted in a premature termination codon at amino acid 560, were found in the RECQL4 gene of the patient. His father was heterozygous for IVS11-1G > A, and his mother for 3401 A>T. Meanwhile, neither of the two mutations were observed in 30 unrelated normal control individuals. Conclusion Two mutations, including IVS11-1G>A and 3401 A>T are present in the RECQL4 gene of the sporadic patient with RTS.

Você conhece esta síndrome? / Do you know this Syndrome?

A síndrome de Rothmund-Thomson é distúrbio autossômico recessivo de expressividade variável associado a mutações do gene RecQL4. Caracteriza-se por poiquilodermia, alopecia, defeitos de crescimento e desenvolvimento, catarata juvenil, alterações dentárias e esqueléticas e predisposição ao câncer cutâneo e ao osteossarcoma. Relata-se caso de paciente de 29 anos de idade com lesões cutâneas desde a infância, catarata bilateral antes dos 20 anos e carcinoma espinocelular aos 26 anos de idade.

Rothmund-Thomson syndrome is an autosomal recessive disorder of variable expression associated to mutations in the RECQL4 gene. Poikilodermatous rash, alopecia, growth and development defects, juvenile cataracts, dental abnormalities and predisposition to skin cancer and osteosarcoma are the main characteristics of this syndrome. The case of a 29-year-old woman with specific cutaneous lesions since childhood, bilateral cataracts before 20 years of age and squamous cell carcinoma at the age of 26 is reported.

A case of Rothmund-Thomson syndrome / 소아과

Rothmund-Thomson syndrome (RTS), is a rare autosomal recessive disorder, characterized by:skin photosensitivity, poikiloderma, sparse hair, sparse eyebrows/lashes, short stature, skeletal abnormalities, cataracts, and an increased risk of malignancy. Skeletal abnormalities include:dysplasia, absent or malformed bones, such as absent radii, osteopenia, and delayed bone formation. RTS is thought to result from chromosomal instability, and children with RTS are at risk of cancer. Reported cancers in children with RTS include:basal cell carcinoma, squamous cell carcinoma of the skin and osteosarcoma of bone. We report an 11 year-old boy, who presented to our institution with poikilodermatous skin change with telangiectasia and hyperpigmentation, absence of radius and thumb, and the development of osteosarcoma of the left tibia. The patient is now receiving supportive care and is receiving maintenance chemotherapy after surgery for osteosarcoma.

A Case of Rothmund-Thomson Syndrome with Pure Red Cell Aplasia, Autoimmune Hemolytic Anemia and Chronic Respiratory Infection / 소아과

Rothmund-Thomson syndrome(RTS), or poikiloderma congenita, is a rare, multisystem disorder. It is inherited genetically as an autosomal recessive trait, occurring predominantly in females(1.4 : 1). The RTS is comprised of poikiloderma, short stature, sparse hair, juvenile cataracts, skeletal defects, dystrophic teeth and nails, photosensitivity, and hypogonadism. We report a case of RTS who died of bleeding from esophageal varices, pulmonary hemorrhage and septic shock at 25 years of age and had suffered from various diseases such as transient pure red cell aplasia, autoimmune hemolytic anemia, chronic maxillary sinusitis, bronchiectasis, secondary hemochromatosis, and liver cirrhosis in addition to poikiloderma, alopecia, and sexual infantalism which are typical of RTS.

A Case of Rothmund-Thomson Syndrome / 대한피부과학회지

Rothmund-Thomson syndrome is a rare autosomal recessive genodermatosis, which is characterized by poikiloderma and photosensitivity with variable features including alopecia, sparse hair, short stature, skeletal abnormalities, juvenile cataracts, and an increased risk of developing skin and bone malignancies. A 19-year-old man presented with poikilodermatous skin change on the whole body since three months old, and accompanied by photosensitivity, alopecia, and brachydactyly. As far as we know, this is the first case report of Rothmund-Thomson syndrome in Korea.