Phacomatosis pigmentokeratotica (PPK) represents a specific “twin nevus”syndrome in which a speckled lentiginous nevus (SLN) is associated with an organoid nevus with sebaceous differentiation. A boy with a large ne...Phacomatosis pigmentokeratotica (PPK) represents a specific “twin nevus”syndrome in which a speckled lentiginous nevus (SLN) is associated with an organoid nevus with sebaceous differentiation. A boy with a large nevus sebaceus on the left face and upper part of the trunk, a giant segmental SLN extending from the abdomen to the feet bilaterally, and right hemihypertrophy developed an embryonal rhabdomyosarcoma of the right abdominal wall at age 6 months. A variety of musculoskeletal, neurologic, and ocular anomalies have been observed in patients with PPK, reflecting the individual manifestations of both SLN and Schimmelpenning syndromes. This report adds hemihypertrophy to the spectrum of extracutaneous manifestations of PPK and, to our knowledge, represents the first observation of a rhabdomyosarcoma arising in contiguity with an SLN in a patient with PPK. The development of a rhabdomyosarcoma in our patient likely reflects both increased propensity for growth (as evidenced by the hemihypertrophy) and the pluripotent nature of neural-crest derived cells within the field defect that underlies an SLN.展开更多
Background: Because the early detection of cutaneous melanoma can dramatically improve survival, identification and surveillance of persons at risk have received much attention. Objective: Our purpose was to examine t...Background: Because the early detection of cutaneous melanoma can dramatically improve survival, identification and surveillance of persons at risk have received much attention. Objective: Our purpose was to examine the influences of personal or family history, patterns of detection, and prior skin biopsies (considered to be a measurement of surveillance by medical personnel) on the Breslow depth of cutaneous melanomas. Methods: A retrospective cohort analysis of 218 patients with a history of at least one invasive cutaneous melanoma who visited the Yale Pigmented Lesion Clinic between January 1995 and January 1996 was performed. Data on patterns of detection, melanocytic nevi, and skin biopsies before and after the initial diagnosis of melanoma were collected, and patients with a family history of melanoma were compared with sporadic patients. Results: Initial melanomas discovered by dermatologists were more likely to be 0.75 mm or less in depth than those found by other physicians (P=.03). Although patients detected 45% of the initial primary melanomas (98/218), dermatologists discovered 80% of the second primary tumors (33/41; P=.001). A personal history of melanoma was predictive of a thinner Breslow depth (P=.01), but a family history of melanoma was not. Having a biopsy of any type or combination of types of skin lesion(s) performed in the 5 years, 2 years, or 1 year before the first diagnosis of melanoma did not predict a melanoma of thinner Breslow depth among either familial or sporadic patients. The mean number of skin biopsies performed per patient was 8 times higher in the 5- year period after (5.6) versus the 5- year period before (0.7) the initial diagnosis of melanoma, with a peak in the first year after the diagnosis (2.3 vs 0.25 in the prior year). In 27 patients, one or more skin biopsies were performed in the year before the initial diagnosis of melanoma; 41% of these biopsies (23/56)were of lesions in normally exposed sites (eg, the face, neck, and forearms) compared with 22% of the melanomas (6/27). Limitations: Since an invasive melanoma (with the possible exception of a nodular melanoma) would likely have been present for at least a year, plausible explanations for why evidence of previous dermatologic care did not appear to result in earlier detection include performance of a limited rather than a total body skin examination as well as subtle clinical features of early melanomas. However, this study cannot give weight to these explanations because at the time new Pigmented Lesion Clinic patients were not routinely asked about previous total body skin examinations. Conclusions: The disappointing trends seen in this study, with neither the wellestablished risk factor of a family history of melanoma nor previously having a skin biopsy predicting thinner melanomas, highlight the need to establish criteria defining the subset of patients for whom appropriate management requires periodic total body skin examination.展开更多
Birt-Hogg-Dubésyndrome (BHDS) is an uncommon autosomal dominant genodermatosis characterized by a triad of skin tumors-fibrofolliculomas, trichodiscomas, and acrochordons-together with an increased risk of renal ...Birt-Hogg-Dubésyndrome (BHDS) is an uncommon autosomal dominant genodermatosis characterized by a triad of skin tumors-fibrofolliculomas, trichodiscomas, and acrochordons-together with an increased risk of renal tumors and spontaneous pneumothoraces. This report describes multiple facial angiofi-bromas as the predominant initial manifestation of BHDS. The patient had a total of 41 facial papules removed via shave excision, initially for diagnostic and then for therapeutic purposes; histologic evaluation revealed diagnostic features of angiofi-broma in 39 lesions and fibrofolliculoma in only 2. BHDS should be considered, along with tuberous sclerosis and multiple endocrine neoplasia type 1, in the differential diagnosis of multiple facial angiofibromas, particularly when onset is in adulthood.展开更多
An 11-year-old boy had a history of easy bruising and poorly healing wounds since infancy and severe, early-onset periodontitis. He also exhibited mild hypermobility of the small joints of the hands, long limbs with s...An 11-year-old boy had a history of easy bruising and poorly healing wounds since infancy and severe, early-onset periodontitis. He also exhibited mild hypermobility of the small joints of the hands, long limbs with striking arachnodactyly, and a triangular face with delicate features. Analysis of type I and type III collagens revealed no abnormalities. These findings were consistent with a diagnosis of Ehlers-Danlos syndrome typeVIII (EDS-VIII), an autosomal dominant connective tissue disorder that was recently mapped to chromosome 12q13. We draw attention to the clinical features that typify EDS-VIII, including extensive pretibial bruising, a marfanoid body habitus, and characteristic facies, as well as childhood onset of progressive periodontal disease.展开更多
文摘Phacomatosis pigmentokeratotica (PPK) represents a specific “twin nevus”syndrome in which a speckled lentiginous nevus (SLN) is associated with an organoid nevus with sebaceous differentiation. A boy with a large nevus sebaceus on the left face and upper part of the trunk, a giant segmental SLN extending from the abdomen to the feet bilaterally, and right hemihypertrophy developed an embryonal rhabdomyosarcoma of the right abdominal wall at age 6 months. A variety of musculoskeletal, neurologic, and ocular anomalies have been observed in patients with PPK, reflecting the individual manifestations of both SLN and Schimmelpenning syndromes. This report adds hemihypertrophy to the spectrum of extracutaneous manifestations of PPK and, to our knowledge, represents the first observation of a rhabdomyosarcoma arising in contiguity with an SLN in a patient with PPK. The development of a rhabdomyosarcoma in our patient likely reflects both increased propensity for growth (as evidenced by the hemihypertrophy) and the pluripotent nature of neural-crest derived cells within the field defect that underlies an SLN.
文摘Background: Because the early detection of cutaneous melanoma can dramatically improve survival, identification and surveillance of persons at risk have received much attention. Objective: Our purpose was to examine the influences of personal or family history, patterns of detection, and prior skin biopsies (considered to be a measurement of surveillance by medical personnel) on the Breslow depth of cutaneous melanomas. Methods: A retrospective cohort analysis of 218 patients with a history of at least one invasive cutaneous melanoma who visited the Yale Pigmented Lesion Clinic between January 1995 and January 1996 was performed. Data on patterns of detection, melanocytic nevi, and skin biopsies before and after the initial diagnosis of melanoma were collected, and patients with a family history of melanoma were compared with sporadic patients. Results: Initial melanomas discovered by dermatologists were more likely to be 0.75 mm or less in depth than those found by other physicians (P=.03). Although patients detected 45% of the initial primary melanomas (98/218), dermatologists discovered 80% of the second primary tumors (33/41; P=.001). A personal history of melanoma was predictive of a thinner Breslow depth (P=.01), but a family history of melanoma was not. Having a biopsy of any type or combination of types of skin lesion(s) performed in the 5 years, 2 years, or 1 year before the first diagnosis of melanoma did not predict a melanoma of thinner Breslow depth among either familial or sporadic patients. The mean number of skin biopsies performed per patient was 8 times higher in the 5- year period after (5.6) versus the 5- year period before (0.7) the initial diagnosis of melanoma, with a peak in the first year after the diagnosis (2.3 vs 0.25 in the prior year). In 27 patients, one or more skin biopsies were performed in the year before the initial diagnosis of melanoma; 41% of these biopsies (23/56)were of lesions in normally exposed sites (eg, the face, neck, and forearms) compared with 22% of the melanomas (6/27). Limitations: Since an invasive melanoma (with the possible exception of a nodular melanoma) would likely have been present for at least a year, plausible explanations for why evidence of previous dermatologic care did not appear to result in earlier detection include performance of a limited rather than a total body skin examination as well as subtle clinical features of early melanomas. However, this study cannot give weight to these explanations because at the time new Pigmented Lesion Clinic patients were not routinely asked about previous total body skin examinations. Conclusions: The disappointing trends seen in this study, with neither the wellestablished risk factor of a family history of melanoma nor previously having a skin biopsy predicting thinner melanomas, highlight the need to establish criteria defining the subset of patients for whom appropriate management requires periodic total body skin examination.
文摘Birt-Hogg-Dubésyndrome (BHDS) is an uncommon autosomal dominant genodermatosis characterized by a triad of skin tumors-fibrofolliculomas, trichodiscomas, and acrochordons-together with an increased risk of renal tumors and spontaneous pneumothoraces. This report describes multiple facial angiofi-bromas as the predominant initial manifestation of BHDS. The patient had a total of 41 facial papules removed via shave excision, initially for diagnostic and then for therapeutic purposes; histologic evaluation revealed diagnostic features of angiofi-broma in 39 lesions and fibrofolliculoma in only 2. BHDS should be considered, along with tuberous sclerosis and multiple endocrine neoplasia type 1, in the differential diagnosis of multiple facial angiofibromas, particularly when onset is in adulthood.
文摘An 11-year-old boy had a history of easy bruising and poorly healing wounds since infancy and severe, early-onset periodontitis. He also exhibited mild hypermobility of the small joints of the hands, long limbs with striking arachnodactyly, and a triangular face with delicate features. Analysis of type I and type III collagens revealed no abnormalities. These findings were consistent with a diagnosis of Ehlers-Danlos syndrome typeVIII (EDS-VIII), an autosomal dominant connective tissue disorder that was recently mapped to chromosome 12q13. We draw attention to the clinical features that typify EDS-VIII, including extensive pretibial bruising, a marfanoid body habitus, and characteristic facies, as well as childhood onset of progressive periodontal disease.
