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.
Alopecia ; Brachydactyly ; Cataract ; Hair ; Humans ; Korea ; Rothmund-Thomson Syndrome* ; Skin ; Young Adult

OBJECTIVE: To explore the genetic basis for a child with Rothmund-Thomson syndrome (RTS). METHODS: The child has featured poikeloderma, short stature, cataract, sparse hair and skeletal malformation. Peripheral blood samples of the child and her family members were collected and subjected to whole exome sequencing. Candidate variants were verified by Sanger sequencing. RESULTS: The child was found to harbor compound heterozygous variants of the RECQL4 gene, namely c.1048_1049delAG and c.2886-1G>A, among which c.2886-1G>A was unreported previously. According to the ACMG guidelines, the c.1048_1049delAG was predicted to be pathogenic (PVS1+PM3_Strong+PM2), while the c.2886-1G>A was predicted to be likely pathogenic (PVS1+PM2). CONCLUSION The compound heterozygous variants of the RECQL4 gene probably underlay the pathogenesis of RTS in this patient. Above finding has enriched the mutational spectrum of the RECQL4 gene.
Child ; Family ; Female ; Humans ; Mutation ; RecQ Helicases/genetics* ; Rothmund-Thomson Syndrome/genetics* ; Whole Exome Sequencing

Osteosarcoma is a primary malignant bone tumor that accounts for 5% of childhood cancers. Despite the use of chemotherapy, long-term survival has reached a plateau, and this figure has not changed for almost 20 years. Therefore, there is a need for understanding of the basic biology and pathogenesis of osteosarcoma in order to develop more therapeutic strategies and ultimately improve survival. This article reviews current state of knowledge about several aspects of osteosarcoma biology with regard to host genetic predispositions, cytogenetics and molecular markers. Genetic conditions with a predisposition to osteosarcoma include hereditary retinoblastoma, Li-Fraumeni syndrome, Rothmund-Thomson syndrome and Werner syndrome. Although most of osteosarcomas are sporadic, these syndromes may provide important clues to the pathogenesis of sporadic osteosarcomas. A multitude of cytogenetic abnormalities have been detected, but no specific abnormalities that can serve as markers of osteosarcoma have been found. Areas of molecular aberrations include tumor suppressor pathway (RB and p53), oncogenes (Her-2), telomere maintenance, angiogenesis (VEGF), chemokines (CXCR4), cytoskeletons (Ezrin), matrix metalloproteinases and adhesion molecules (CD44). Understanding the contributions of the different cytogenetic and molecular aberrations will aid in discovering predictors of outcome and in devising therapies for osteosarcoma.
Biomarkers* ; Biology ; Chemokines ; Chromosome Aberrations ; Cytogenetics ; Cytoskeleton ; Drug Therapy ; Genetic Predisposition to Disease ; Li-Fraumeni Syndrome ; Matrix Metalloproteinases ; Oncogenes ; Osteosarcoma* ; Retinoblastoma ; Rothmund-Thomson Syndrome ; Telomere ; Werner Syndrome

Hereditary sclerosing poikiloderma (HSP) is a very rare disease. The clinical features are principally widespread poikiloderma and linear hyperkeratotic and sclerotic bands. We report an 18-yr-old male who presented reticular hyperpigmented lesions on the trunk and extremities since 2-yr-old. Also, linear sclerosing bands appeared on both antecubital and popliteal fossae after yr. Histopathologic finding showed dense sclerotic collagen fibers with telangiectasia in the upper dermis and fragmentations of damaged elastic fibers in the elastic stain, consistent with HSP. We report the first Korean case of HSP.
Abnormalities, Multiple ; Adolescent ; Elastic Tissue/pathology ; Fingers/abnormalities ; Humans ; Hyperpigmentation/pathology ; Male ; Micrognathism/pathology ; Rothmund-Thomson Syndrome/*diagnosis/pathology ; Sclerosis/pathology ; Skin Diseases/diagnosis/pathology

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.
Bone Diseases, Metabolic ; Carcinoma, Squamous Cell ; Cataract ; Child ; Chromosomal Instability ; Hair ; Humans ; Hyperpigmentation ; Maintenance Chemotherapy ; Male ; Osteogenesis ; Osteosarcoma ; Radius ; Rothmund-Thomson Syndrome* ; Skin ; Telangiectasis ; Thumb ; Tibia

Rothmund-Thomson syndrome (RTS) is a rare, autosomal recessive disorder characterized by early onset of progressive poikiloderma, cutaneous and extracutaneous findings including sparse hair, juvenile cataracts, short stature, skeletal defects, hypogonadism, dystrophic teeth and nails.
This is a case of a 4-year-old boy who developed at 2 months of age, reticulated erythematous macules and patches over predominantly sun-exposed areas such as the malar areas, ears, neck, extensor surfaces of the forearms and legs. This later on progressed into poikilodermatous lesions associated with sparse scalp hair, eyebrows, eyelashes and short stature. This is a report on the first documented Filipino patient diagnosed with RTS.

Human ; Male ; Child Preschool ; Atrophy ; Cataract ; Connective Tissue Diseases ; Dwarfism ; Eyebrows ; Eyelashes ; Forearm ; Hypogonadism ; Leg ; Nails ; Rothmund-thomson Syndrome ; Scalp ; Skin Diseases

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.
Alopecia ; Anemia, Hemolytic, Autoimmune* ; Bronchiectasis ; Cataract ; Esophageal and Gastric Varices ; Hair ; Hemochromatosis ; Hemorrhage ; Humans ; Hypogonadism ; Infant ; Liver Cirrhosis ; Maxillary Sinus ; Maxillary Sinusitis ; Red-Cell Aplasia, Pure* ; Rothmund-Thomson Syndrome* ; Shock, Septic ; Tooth