ABSTRACT
Ras-associated autoimmune leucoproliferative disorder (RALD) is a nonmalignant syndrome associated with somatic KRAS mutations. We report a patient with RALD and cutaneous lesions, the first such case reported, to our knowledge. An 8-year-old boy presented with erythematous plaques on his face and body, along with lymphadenopathies and spleen enlargement without systemic symptoms. An increased number of monocytes were found in skin biopsy, peripheral blood and bone marrow (BM). Juvenile myelomonocytic leukaemia (JMML) was suspected. Genetic study using peripheral blood showed no mutations in the KRAS, PTPN11, NRAS, CBL or BCR-ABL genes, but bone marrow analysis revealed a mutation (p-G12S/c.34 G>A) in the KRAS gene. The karyotype was normal. No KRAS mutations were found using molecular analysis of saliva. The diagnosis of RALD was proposed. The differential diagnosis between RALD and JMML is challenging because there are no established criteria to differentiate between them. The clinical course of RALD is uncertain, so long-term follow-up is recommended.
Subject(s)
Autoimmune Lymphoproliferative Syndrome/diagnosis , Proto-Oncogene Proteins p21(ras) , Skin Diseases/etiology , Skin/pathology , Autoimmune Lymphoproliferative Syndrome/complications , Autoimmune Lymphoproliferative Syndrome/genetics , Autoimmune Lymphoproliferative Syndrome/pathology , Biopsy , Child , DNA Mutational Analysis , Diagnosis, Differential , Genes, ras , Humans , Leukemia, Myelomonocytic, Juvenile/diagnosis , Male , Mutation , Proto-Oncogene Proteins p21(ras)/geneticsABSTRACT
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Subject(s)
Humans , Male , Infant, Newborn , Nevus, Blue/drug therapy , Antibiotics, Antineoplastic/therapeutic use , Gastrointestinal Neoplasms/drug therapy , Sirolimus/therapeutic use , Skin Neoplasms/drug therapySubject(s)
Anti-Inflammatory Agents/adverse effects , Encephalomyelitis, Acute Disseminated/chemically induced , Methylprednisolone/adverse effects , Anti-Inflammatory Agents/administration & dosage , Ataxia/drug therapy , Ataxia/etiology , Child , Diphtheria-Tetanus-Pertussis Vaccine/adverse effects , Dose-Response Relationship, Drug , Fever/drug therapy , Fever/etiology , Humans , Male , Methylprednisolone/administration & dosage , Muscle Rigidity/drug therapy , Muscle Rigidity/etiologyABSTRACT
The cases of three female Guinean children are described. Bloods tests were nonspecific, showing a moderately high globular sedimentation rate. The patients received combined therapy with systemic antibiotic therapy (including local gentamicin administration in two of the three patients) and surgery. One patient returned to Guinea and was lost to follow-up. The second patient showed severe sequelae and the third patient had a favorable outcome. In recent years, the prevalence of chronic osteomyelitis in Africa has increased. Most patients have multiple bone involvement and multiple etiology. Blood cultures are negative in 40 % of patients and severe radiologic abnormalities, most commonly fractures, are frequent. A successful therapeutic regimen must be based on antibiotic and surgical treatment.
Subject(s)
Osteomyelitis , Child , Child, Preschool , Chronic Disease , Emigration and Immigration , Female , Guinea/ethnology , Humans , Osteomyelitis/etiology , Osteomyelitis/physiopathology , Osteomyelitis/therapy , Spain/epidemiologyABSTRACT
No disponible
Subject(s)
Adolescent , Male , Infant , Female , Humans , Syndrome , Erythema Infectiosum , Skin Diseases, Papulosquamous , Purpura , BCG Vaccine , Lymphadenitis , Fever , Hand Dermatoses , Foot DermatosesABSTRACT
No disponible
