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
Several ectodermal dysplasia syndromes have been shown to result from mutations in the gene that encodes the transcription factor p63. We describe an 11- year-old boy, with clinically normal parents, who had a develop...Several ectodermal dysplasia syndromes have been shown to result from mutations in the gene that encodes the transcription factor p63. We describe an 11- year-old boy, with clinically normal parents, who had a developmental disorder that resembled EEC (ectrodactyly ectodermal dysplasia-clefting) syndrome (OMIM 604292). He had ectrodactyly and missing middle fingers bilaterally, onychodysplasia, hypodontia with missing teeth, hypohidrosis and lacrimal duct obstruction. DNA sequencing disclosed a heterozygous G ?ú .A substitution at nucleotide 893, that converts an arginine residue (CGA) to glutamine (CAA), the mutation being designated R298Q. This mutation occurs within the DNA-binding domain of p63, and is close to many of the published EEC syndrome mutations. However, R298Q has been described once previously in a large German pedigree, not with EEC syndrome, but another ectodermal dysplasia disorder, ADULT (acro-dermato-unguallacrimal-tooth) syndrome (OMIM 103285). Further clinical assessment in our patient revealed that, apart from not having cleft lip and/or palate, he had an exfoliative dermatitis of his hands and feet, and some freckling on his face and shoulders. Collectively, these features support a diagnosis of ADULT syndrome. This study has identified a specific genotype- phenotype correlation in a rare ectodermal dysplasia syndrome and the findings are useful in improving genetic counselling in this family.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
Primary cutaneous T- cell lymphoproliferative disorders (PCTCLDs) are uncommon in organ transplant recipients. CD30+ PCTCLDs are rare in children and have not previously been reported following organ transplantation. ...Primary cutaneous T- cell lymphoproliferative disorders (PCTCLDs) are uncommon in organ transplant recipients. CD30+ PCTCLDs are rare in children and have not previously been reported following organ transplantation. We report a 15- yearold boy with Netherton’ s syndrome who developed CD30+ PCTCLD 6 years following a cardiac transplantation.展开更多
Wereporta 12-year-oldboywithdental,auricular,nasolacrimal duct and unique eyelid anomalies as well as cribriform scrotal atrophy. We believe this is the first description of such a case, although many of the features ...Wereporta 12-year-oldboywithdental,auricular,nasolacrimal duct and unique eyelid anomalies as well as cribriform scrotal atrophy. We believe this is the first description of such a case, although many of the features fit within the spectrum of the ankyloblepharon/ectodermal dysplasia/clefting (AEC) syndrome.展开更多
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Several ectodermal dysplasia syndromes have been shown to result from mutations in the gene that encodes the transcription factor p63. We describe an 11- year-old boy, with clinically normal parents, who had a developmental disorder that resembled EEC (ectrodactyly ectodermal dysplasia-clefting) syndrome (OMIM 604292). He had ectrodactyly and missing middle fingers bilaterally, onychodysplasia, hypodontia with missing teeth, hypohidrosis and lacrimal duct obstruction. DNA sequencing disclosed a heterozygous G ?ú .A substitution at nucleotide 893, that converts an arginine residue (CGA) to glutamine (CAA), the mutation being designated R298Q. This mutation occurs within the DNA-binding domain of p63, and is close to many of the published EEC syndrome mutations. However, R298Q has been described once previously in a large German pedigree, not with EEC syndrome, but another ectodermal dysplasia disorder, ADULT (acro-dermato-unguallacrimal-tooth) syndrome (OMIM 103285). Further clinical assessment in our patient revealed that, apart from not having cleft lip and/or palate, he had an exfoliative dermatitis of his hands and feet, and some freckling on his face and shoulders. Collectively, these features support a diagnosis of ADULT syndrome. This study has identified a specific genotype- phenotype correlation in a rare ectodermal dysplasia syndrome and the findings are useful in improving genetic counselling in this family.
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.
文摘Primary cutaneous T- cell lymphoproliferative disorders (PCTCLDs) are uncommon in organ transplant recipients. CD30+ PCTCLDs are rare in children and have not previously been reported following organ transplantation. We report a 15- yearold boy with Netherton’ s syndrome who developed CD30+ PCTCLD 6 years following a cardiac transplantation.
文摘Wereporta 12-year-oldboywithdental,auricular,nasolacrimal duct and unique eyelid anomalies as well as cribriform scrotal atrophy. We believe this is the first description of such a case, although many of the features fit within the spectrum of the ankyloblepharon/ectodermal dysplasia/clefting (AEC) syndrome.
