ABSTRACT
We present a patient with poikiloderma, severe osteoporosis and a mild intellectual disability. At the age of 9 years, this patient was proposed to suffer from a novel disease entity designated as calcinosis cutis, osteoma cutis, poikiloderma and skeletal abnormalities (COPS) syndrome. At the age of 35, he was diagnosed with Hodgkin's lymphoma. Recently, biallelic pathogenic variants in the RECQL4 gene were detected (c.1048_1049delAG and c.1391-1G>A), confirming a diagnosis of Rothmund-Thomson syndrome (RTS). In the brother of this patient, who had a milder phenotype, a similar diagnosis was made. CONCLUSION: We conclude that COPS syndrome never existed as a separate syndrome entity. Instead, osteoma cutis may be regarded as a novel feature of RTS, whereas mild intellectual disability and lymphoma may be underreported parts of the phenotype. What is new: ⢠Osteoma cutis was not a known feature in Rothmund-Thomson patients. ⢠Intellectual disability may be considered a rare feature in RTS; more study is needed. What is known: ⢠RTS is a well-described syndrome caused by mutations in the RECQL4 gene. ⢠Patients with RTS frequently show chromosomal abnormalities like, e.g. mosaic trisomy 8.
Subject(s)
Rothmund-Thomson Syndrome/diagnosis , Adult , Bone Diseases, Metabolic/diagnosis , Bone and Bones/abnormalities , Calcinosis/diagnosis , Chromosomes, Human, Pair 8 , Delayed Diagnosis , Humans , Intellectual Disability/diagnosis , Lymphoma, Non-Hodgkin/diagnosis , Male , Ossification, Heterotopic/diagnosis , Osteoporosis/diagnosis , Skin Diseases, Genetic/diagnosis , Syndrome , TrisomySubject(s)
Mycosis Fungoides/epidemiology , Skin Neoplasms/epidemiology , Aged , Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Female , Humans , Male , Methotrexate/administration & dosage , Middle Aged , Mycosis Fungoides/drug therapy , Mycosis Fungoides/pathology , Prednisolone/administration & dosage , Pruritus/epidemiology , Pruritus/pathology , Skin Neoplasms/drug therapy , Skin Neoplasms/pathology , Tanzania/epidemiology , Treatment Outcome , Young AdultABSTRACT
OBJECTIVES: To demonstrate the value of routine, basic sexually transmitted infection (STI) screening at enrolment into an HIV-1 vaccine feasibility cohort study and to highlight the importance of soliciting a history of receptive anal intercourse (RAI) in adults identified as "high risk". METHODS: Routine STI screening was offered to adults at high risk of HIV-1 upon enrolment into a cohort study in preparation for HIV-1 vaccine trials. Risk behaviours and STI prevalence were summarised and the value of microscopy assessed. Associations between prevalent HIV-1 infection and RAI or prevalent STI were evaluated with multiple logistic regression. RESULTS: Participants had a high burden of untreated STI. Symptom-directed management would have missed 67% of urethritis cases in men and 59% of cervicitis cases in women. RAI was reported by 36% of male and 18% of female participants. RAI was strongly associated with HIV-1 in men (adjusted odds ratio (aOR) 3.8; 95% CI 2.0 to 6.9) and independently associated with syphilis in women (aOR 12.9; 95% CI 3.4 to 48.7). CONCLUSIONS: High-risk adults recruited for HIV-1 prevention trials carry a high STI burden. Symptom-directed treatment may miss many cases and simple laboratory-based screening can be done with little cost. Risk assessment should include questions about anal intercourse and whether condoms were used. STI screening, including specific assessment for anorectal disease, should be offered in African research settings recruiting participants at high risk of HIV-1 acquisition.
