We report three unrelated patients affected at birth with an unusually severe form of epidermolysis bullosa simplex Dowling-Meara type (EBS-DM) because of mutations in KRT14 encoding keratin 14. Two patients were hete...We report three unrelated patients affected at birth with an unusually severe form of epidermolysis bullosa simplex Dowling-Meara type (EBS-DM) because of mutations in KRT14 encoding keratin 14. Two patients were heterozygous for the previously described p.M119T mutation. The third patient was heterozygous for a novel c.1246delC mutation predicting the replacement of the helix termination peptide and the tail domain by a 25 amino-acid aberrant carboxy terminal sequence. At age 2 years, patients carrying the p.M119T mutation still suffered from severe EBS-DM, whereas the patient harboring the c.1246delC mutation has improved over time. These cases illustrate genotype-phenotype correlations and have implications for genetic counselling of EBS.展开更多
Objective: To establish whether the prognosis of bilateral facial capillary malformation (BFCM) is worse compared with that of unilateral facial port-wine stain. Design: Retrospective study. Setting: Paediatric Dermat...Objective: To establish whether the prognosis of bilateral facial capillary malformation (BFCM) is worse compared with that of unilateral facial port-wine stain. Design: Retrospective study. Setting: Paediatric Dermatology Department, Great Ormond Street Hospital for Children NHS Trust, a tertiary referral center for vascular anomalies. Patients: A cohort of 350 children who presented with facial CM was seen between January 1, 1994, and June 30, 2004. Twenty-seven children with BFCM were identified. A control group of 27 children with unilateral CM was randomly selected from the total cohort. Main Outcome Measures: Demographic, clinical, and radiographic characteristics were recorded and compared between the 2 groups: age at presentation, sex, distribution, extension, extrafacial lesions, glaucoma, ipsilateral leptomeningeal angiomatosis, and epilepsy. The recorded informationwas collected from the database of the Paediatric Dermatology Department, the hospital records, and the patients’photographs. Results: Compared with the 27 children with unilateral facial CM, the 27 with BFCM showed a higher frequency of association with extrafacial lesions (17 [63%] vs 6 [22%]), glaucoma (21 [78%]-vs 2 [7%]), and ipsilateral leptomeningeal angiomatosis (14[52%] vs 2 [7%]). All patients who had BFCM with bilateral and complete involvement of the ophthalmic area had ipsilateral leptomeningeal angiomatosis. Conclusion: Patients with BFCM must be considered as a group with a worse prognosis compared with patients with unilateral facial CM.展开更多
We report a 7-year-old boy who presented with a facial haemangioma, a circumscribed depression over the sternum, coarctation of the aorta, ventricular septal defect and dysplastic cerebral arteries responsible for an ...We report a 7-year-old boy who presented with a facial haemangioma, a circumscribed depression over the sternum, coarctation of the aorta, ventricular septal defect and dysplastic cerebral arteries responsible for an episode of acute infarct. This combination of clinical features has been described as the sternal malformation/vascular dysplasia syndrome or PHACES syndrome. At the age of 5 years, lines of hypopigmentation were noted on the right arm, the right hand and the back, along the lines of, with no history of any preceding inflammatory changes, and have persisted unchanged. These pigmentary changes have not previously been reported in association with this syndrome.展开更多
文摘We report three unrelated patients affected at birth with an unusually severe form of epidermolysis bullosa simplex Dowling-Meara type (EBS-DM) because of mutations in KRT14 encoding keratin 14. Two patients were heterozygous for the previously described p.M119T mutation. The third patient was heterozygous for a novel c.1246delC mutation predicting the replacement of the helix termination peptide and the tail domain by a 25 amino-acid aberrant carboxy terminal sequence. At age 2 years, patients carrying the p.M119T mutation still suffered from severe EBS-DM, whereas the patient harboring the c.1246delC mutation has improved over time. These cases illustrate genotype-phenotype correlations and have implications for genetic counselling of EBS.
文摘Objective: To establish whether the prognosis of bilateral facial capillary malformation (BFCM) is worse compared with that of unilateral facial port-wine stain. Design: Retrospective study. Setting: Paediatric Dermatology Department, Great Ormond Street Hospital for Children NHS Trust, a tertiary referral center for vascular anomalies. Patients: A cohort of 350 children who presented with facial CM was seen between January 1, 1994, and June 30, 2004. Twenty-seven children with BFCM were identified. A control group of 27 children with unilateral CM was randomly selected from the total cohort. Main Outcome Measures: Demographic, clinical, and radiographic characteristics were recorded and compared between the 2 groups: age at presentation, sex, distribution, extension, extrafacial lesions, glaucoma, ipsilateral leptomeningeal angiomatosis, and epilepsy. The recorded informationwas collected from the database of the Paediatric Dermatology Department, the hospital records, and the patients’photographs. Results: Compared with the 27 children with unilateral facial CM, the 27 with BFCM showed a higher frequency of association with extrafacial lesions (17 [63%] vs 6 [22%]), glaucoma (21 [78%]-vs 2 [7%]), and ipsilateral leptomeningeal angiomatosis (14[52%] vs 2 [7%]). All patients who had BFCM with bilateral and complete involvement of the ophthalmic area had ipsilateral leptomeningeal angiomatosis. Conclusion: Patients with BFCM must be considered as a group with a worse prognosis compared with patients with unilateral facial CM.
文摘We report a 7-year-old boy who presented with a facial haemangioma, a circumscribed depression over the sternum, coarctation of the aorta, ventricular septal defect and dysplastic cerebral arteries responsible for an episode of acute infarct. This combination of clinical features has been described as the sternal malformation/vascular dysplasia syndrome or PHACES syndrome. At the age of 5 years, lines of hypopigmentation were noted on the right arm, the right hand and the back, along the lines of, with no history of any preceding inflammatory changes, and have persisted unchanged. These pigmentary changes have not previously been reported in association with this syndrome.
