Subject(s)
Embolism/chemically induced , Ischemia/chemically induced , Skin/blood supply , Vaccination/adverse effects , Child, Preschool , Embolism/diagnosis , Humans , Immunization, Secondary , Injections, Intramuscular/adverse effects , Ischemia/diagnosis , Male , Quadriceps Muscle/blood supply , Quadriceps Muscle/drug effects , Syndrome , Vascular Resistance/drug effectsABSTRACT
BACKGROUND: Congenital peripheral elephantiasiformic alterations are very rare in paediatric patients. In a patient with lymphangiectasia-lymphedema syndrome we demonstrate over a 8-year follow-up that not only cosmetic and social indications for surgical treatments but also internal care become important during the course. PATIENT: We report on a boy with congenital lymphedemas of the extremities and the genital region, which were several times surgically treated. The patient became symptomatic firstly with tetanic cramps caused by malabsorption syndrome due to intestinal lymphangiectasia at the age of 6 years. Synopsis of clinical and laboratory findings and the patient's course are pointing to a mild Hennekam syndrome with still unknown aetiology. RESULTS: The boy developed adequately with permanent oral substitution of electrolytes and vitamins, protein-rich diet, supplementation of medium-chain fatty acids and compressing bandages. Infusions of human albumin to correct persistent hypalbuminemia as well as cytostatic treatment with cyclophosphamide as a formal trial were ineffective and are not advisable, therefore.
Subject(s)
Lymphangiectasis, Intestinal/diagnosis , Lymphangiectasis/congenital , Lymphedema/congenital , Lymphedema/diagnosis , Protein-Losing Enteropathies/congenital , Child , Combined Modality Therapy , Diagnosis, Differential , Dietary Proteins/administration & dosage , Electrolytes/administration & dosage , Follow-Up Studies , Humans , Infusions, Intravenous , Lymphangiectasis/diagnosis , Lymphangiectasis/therapy , Lymphangiectasis, Intestinal/therapy , Lymphedema/therapy , Male , Protein-Losing Enteropathies/diagnosis , Protein-Losing Enteropathies/therapy , Serum Albumin/administration & dosage , Treatment Outcome , Vitamins/administration & dosageABSTRACT
Epidermolytic hyperkeratosis is characterized by tonofilament clumping, cytolysis, and blister formation in suprabasal keratinocytes. It has been shown that the tonofilament aggregates in these areas are composed of keratin 1 (K1) and keratin 10 (K10), and several K1 and K10 point mutations have been identified as the molecular basis of epidermolytic hyperkeratosis. In this report we identify a novel, single base pair substitution resulting in an amino acid exchange from tyrosine to serine at residue 14 within the conserved 1A region of K10 (Y14S). This A to C transversion in codon 160 was only present in the affected individual and was associated with a very severe disease phenotype. Our observations are in agreement with previous reports documenting that this tyrosine residue, located at the beginning of the rod domain of type I keratins, is particularly sensitive to amino acid substitutions, and that alterations in this residue can have deleterious effects on filament assembly and stability.
