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A localized scleroderma-like reaction in a giant congenital nevus
PEDIATRIC DERMATOLOGY 683 A complex course: Referral paths to pediatric dermatology Alexander Fogel, Stanford University School of Medicine, Stanford, CA, United States; Joyce Teng, MD, PhD, Stanford University Department of Dermatology, Division of Pediatric Dermatology, Palo Alto, CA, United States Studies indicate that more than one-third of referrals received by pediatric dermatologists were initially misdiagnosed or improperly treated, indicating that enhanced triage methods and early referral to pediatric dermatology may be beneficial. However, referral paths to pediatric dermatologists are currently unclear. To assess this aspect of medical practice, we distributed IRB-exempt surveys to all 226 practicing US board-certified pediatric dermatologists. Nearly half (48%, 108/226) responded, broadly mirroring the overall distribution of practitioners with respect to geographic region, gender, and practice type. Overall, referrals were found to come from a wide variety of sources, with an average of 54% from general pediatricians, 16% self-referred, 11% from family physicians, 10% from other dermatologists, 8% from pediatric specialists, and 2% from other sources. Referral patterns were found to differ significantly by practice type, with private practitioners obtaining more self-referrals than academic physicians (30.6% vs. 10.0%, P ¼ 1 3 10e6). However, academic physicians receive more referrals from pediatricians (57.7% vs. 41.4%, P ¼ 7 3 10e4), pediatric specialists (10.2% vs. 5.4%, P ¼ 3 3 10e4) and other dermatologists (11.2% vs. 7.3%, P ¼ .027) than do private practitioners. The significant differences in referral patterns between the two practice groups may elucidate the forces that shape patient referral pathways. The increased rates of dermatologist and pediatric specialist referrals to academic pediatric dermatologists may reflect greater case complexity, greater levels of patient comorbidities, or intraacademic referral habits. Reduced general pediatrician referrals to private practice pediatric dermatology may indicate a referral path in which pediatricians manage most cases and refer more complex cases to general dermatologists, due to the greater availability of these physicians, or tertiary care centers, staffed by academic physicians. It is unclear whether self-referred patients prefer private practitioners outright or whether they lack access to academic physicians. The substantial differences in referral pathways may indicate that triage inefficiency is occurring. Given changes in the health care landscape toward quality improvement and cost reduction, an understanding of referral patterns provides a basis for further study to improving efficiency, access and outcomes in pediatric dermatology.
2040 A localized scleroderma-like reaction in a giant congenital nevus Aikaterini Patsatsi, MD, PhD, 2nd Dermatology Department, Aristotle University School of Medicine, Thessaloniki, Greece; Vassilios Lambropoulos, MD, Department of Pediatric Surgery, Aristotle University School of Medicine, Thessaloniki, Greece; Ioannis Efstratiou, MD, PhD, Department of Pathology, Papageorgiou General Hospital, Thessaloniki, Greece; Miltiadis Kokolios, MD, 2nd Dermatology Department, Aristotle University School of Medicine, Thessaloniki, Greece; Olga Pikou, MD, 2nd Dermatology Department, Aristotle University School of Medicine, Thessaloniki, Greece; Dimitrios Sotiriadis, MD, PhD, 2nd Dermatology Department, Aristotle University School of Medicine, Thessaloniki, Greece A 6-year-old girl—one of dizygotic twins after in vitro fertilization—presented with a zosteriform plaque on the lower abdomen, pubic and lumbosacral area. On palpation, the lesion was uniformly sclerotic. Around and inside the induration, there were foci of pigmentation, reminders of a giant congenital nevus. Photographic material from the neonatal period was available for evaluation of the lesion’s evolution during the past 6 years. The sclerodermiform reaction process seems to have started in utero, as at birth, there were also sclerotic areas and more pigmented foci that seemed to have regressed six years later. Histology from two separate punch biopsies revealed features of a congenital nevus in the pigmented areas and dermal fibrosis in the areas of induration. There were no intense lymphocytic infiltrates, as seen in cases of regressed nevi. No mitoses or signs of malignant transformation were present. This a rare presentation of a giant congenital nevus with a progressive sclerodermoid reaction, described in a few papers in the literature. It has been suggested that fibrotic stromal change may represent an atypical host reaction to the nevus cells and not a regressive phenomenon. A multidirectional differentiation of melanocytes into adaptive fibroblasts and tumor extracellular matrix interactions may lead to the induction of collagen synthesis. Fibrosis is progressive and nevus cells are depleted resulting in focal pigment loss. The malignant potential of this type of lesion has to be elucidated in order to avoid extended excision with residual disfigurements. Commercial support: None identified.
Commercial support: None identified.
1998 A giant congenital folliculosebaceous cystic hamartoma Maria Carmen Ceballos-Rodriguez, MD, Clınica Universitaria de Navarra, Madrid, Spain; Minia Campos-Dominguez, MD, Hospital General Universitario Gregorio Mara~ non, Madrid, Spain; Veronica Parra-Blanco, MD, Hospital General Universitario Gregorio Mara~ non, Madrid, Spain; Paloma Borregon-Nofuentes, MD, Clınica Universitaria de Navarra, Madrid, Spain
1961
Discussion: FSCH is a rare entity, with only 71 cases described in the literature since it was first described by Kimura et al in 1991. It normally presents as a solitary skincolored papule or nodule, measuring 0.5 to 1.5 cm in diameter, located on the head or neck. It usually appears in adults, but it can affect people of all ages. The diagnosis is based on the histopathology, where an intradermic lesion consisting of dilated or cystic follicular structures surrounded by multiple sebaceous glands is seen. These epithelial structures are surrounded by compactly laminated fibroplasia forming the fibroepithelial units. Between the fibroepithelial units we find the stromal component of the lesion. There are clefts between the fibroepithelial units and the stroma, and between the stroma and the adjacent compressed connective tissue. It is necessary to make the differential diagnosis with the trichofolliculoma (TF). Conclusion: This the fourth case of giant congenital FSCH reported in the literature. It represents the largest FSCH described in the pediatric age, the largest described in the trunk and the only giant FSCH described in the abdomen.
A rare case of pachyonychia congenita due to a p.N125S mutation in the keratin 16 gene Bryan McDonald, MBChB, Luton and Dunstable University Hospital, Luton, United Kingdom; Bernadette DeSilva, MBBCh, Luton and Dunstable University Hospital, Luton, United Kingdom We report the case of a 5-year-old female who was referred to dermatology with treatment resistant painful callouses on her feet particularly when walking, which developed aged 4. She was born to nonconsanguineous parents and had no perinatal problems. No family members were affected and there was no history of psoriasis. On examination she had localized painful symmetrical hyperkeratoses of the medial great toes and the lateral little toes of both feet. No other skin, nail or mucosal changes were noted on full examination. The initial diagnosis was focal nonepidermolytic keratoderma and she was referred for orthotics, had Balneum Plus soaks nocte, Eucerin intense 10% urea lotion and mometasone furoate 0.1% ointment for inflammation. Subsequent genetic studies showed a p.N125S mutation in the keratin 16 gene, confirming pachyonychia congenita (PC). She subsequently developed both warts and molluscum contagiosum. There are 35 cases of PC reported with the keratin 16 gene p.N125S mutation worldwide out of a total of 582 individuals. Our patient demonstrates a subtle presentation of isolated painful hyperkeratoses of the feet in keeping with recent research demonstrating that patients with p.N125S and p.R127C mutations have less severe disease than patients with the p.N125D and p.R127P mutations. Our patient also had both HPV infection and molluscum contagiosum. It has been shown that keratin 16 levels are lower in HPV 16 infected keratinocytes and that keratin 16 is associated with regulation of inflammation in the skin. What is not clear is whether a keratin 16 mutation increases the risk of a patient developing viral skin infections and we suggest further work is needed.
Commercial support: None identified.
Commercial support: None identified.
Introduction: Folliculosebaceous cystic hamartoma (FSCH) is a cutaneous hamartomatous proliferation consisting of dilated folliculosebaceous units invested in mesenchymal elements. It normally appears in adults and it is usually located on the head or neck. Case report: We present the case of a congenital lesion in a female newborn delivered at 33 weeks after a trigemelar pregnancy. At examination, we detected a large red-colored, well-circumscribed firm tumor, located on her left flank. Doppler ultrasonography did not support the vascular origin of the tumor. A biopsy was taken 50 days after, which was diagnostic for FSCH. When the baby was 6 months old, we made a complete surgical excision of the lesion, which had reached 9 3 5 cm, was performed. The histopathology confirmed the diagnosis. In the 3-month postsurgery revision, the scar had a good aspect, without relapse signs.
AB196
J AM ACAD DERMATOL
MAY 2015
2040 A localized scleroderma-like reaction in a giant congenital nevus Aikaterini Patsatsi, MD, PhD, 2nd Dermatology Department, Aristotle University School of Medicine, Thessaloniki, Greece; Vassilios Lambropoulos, MD, Department of Pediatric Surgery, Aristotle University School of Medicine, Thessaloniki, Greece; Ioannis Efstratiou, MD, PhD, Department of Pathology, Papageorgiou General Hospital, Thessaloniki, Greece; Miltiadis Kokolios, MD, 2nd Dermatology Department, Aristotle University School of Medicine, Thessaloniki, Greece; Olga Pikou, MD, 2nd Dermatology Department, Aristotle University School of Medicine, Thessaloniki, Greece; Dimitrios Sotiriadis, MD, PhD, 2nd Dermatology Department, Aristotle University School of Medicine, Thessaloniki, Greece A 6-year-old girl—one of dizygotic twins after in vitro fertilization—presented with a zosteriform plaque on the lower abdomen, pubic and lumbosacral area. On palpation, the lesion was uniformly sclerotic. Around and inside the induration, there were foci of pigmentation, reminders of a giant congenital nevus. Photographic material from the neonatal period was available for evaluation of the lesion’s evolution during the past 6 years. The sclerodermiform reaction process seems to have started in utero, as at birth, there were also sclerotic areas and more pigmented foci that seemed to have regressed six years later. Histology from two separate punch biopsies revealed features of a congenital nevus in the pigmented areas and dermal fibrosis in the areas of induration. There were no intense lymphocytic infiltrates, as seen in cases of regressed nevi. No mitoses or signs of malignant transformation were present. This a rare presentation of a giant congenital nevus with a progressive sclerodermoid reaction, described in a few papers in the literature. It has been suggested that fibrotic stromal change may represent an atypical host reaction to the nevus cells and not a regressive phenomenon. A multidirectional differentiation of melanocytes into adaptive fibroblasts and tumor extracellular matrix interactions may lead to the induction of collagen synthesis. Fibrosis is progressive and nevus cells are depleted resulting in focal pigment loss. The malignant potential of this type of lesion has to be elucidated in order to avoid extended excision with residual disfigurements. Commercial support: None identified.
Commercial support: None identified.
1998 A giant congenital folliculosebaceous cystic hamartoma Maria Carmen Ceballos-Rodriguez, MD, Clınica Universitaria de Navarra, Madrid, Spain; Minia Campos-Dominguez, MD, Hospital General Universitario Gregorio Mara~ non, Madrid, Spain; Veronica Parra-Blanco, MD, Hospital General Universitario Gregorio Mara~ non, Madrid, Spain; Paloma Borregon-Nofuentes, MD, Clınica Universitaria de Navarra, Madrid, Spain
1961
Discussion: FSCH is a rare entity, with only 71 cases described in the literature since it was first described by Kimura et al in 1991. It normally presents as a solitary skincolored papule or nodule, measuring 0.5 to 1.5 cm in diameter, located on the head or neck. It usually appears in adults, but it can affect people of all ages. The diagnosis is based on the histopathology, where an intradermic lesion consisting of dilated or cystic follicular structures surrounded by multiple sebaceous glands is seen. These epithelial structures are surrounded by compactly laminated fibroplasia forming the fibroepithelial units. Between the fibroepithelial units we find the stromal component of the lesion. There are clefts between the fibroepithelial units and the stroma, and between the stroma and the adjacent compressed connective tissue. It is necessary to make the differential diagnosis with the trichofolliculoma (TF). Conclusion: This the fourth case of giant congenital FSCH reported in the literature. It represents the largest FSCH described in the pediatric age, the largest described in the trunk and the only giant FSCH described in the abdomen.
A rare case of pachyonychia congenita due to a p.N125S mutation in the keratin 16 gene Bryan McDonald, MBChB, Luton and Dunstable University Hospital, Luton, United Kingdom; Bernadette DeSilva, MBBCh, Luton and Dunstable University Hospital, Luton, United Kingdom We report the case of a 5-year-old female who was referred to dermatology with treatment resistant painful callouses on her feet particularly when walking, which developed aged 4. She was born to nonconsanguineous parents and had no perinatal problems. No family members were affected and there was no history of psoriasis. On examination she had localized painful symmetrical hyperkeratoses of the medial great toes and the lateral little toes of both feet. No other skin, nail or mucosal changes were noted on full examination. The initial diagnosis was focal nonepidermolytic keratoderma and she was referred for orthotics, had Balneum Plus soaks nocte, Eucerin intense 10% urea lotion and mometasone furoate 0.1% ointment for inflammation. Subsequent genetic studies showed a p.N125S mutation in the keratin 16 gene, confirming pachyonychia congenita (PC). She subsequently developed both warts and molluscum contagiosum. There are 35 cases of PC reported with the keratin 16 gene p.N125S mutation worldwide out of a total of 582 individuals. Our patient demonstrates a subtle presentation of isolated painful hyperkeratoses of the feet in keeping with recent research demonstrating that patients with p.N125S and p.R127C mutations have less severe disease than patients with the p.N125D and p.R127P mutations. Our patient also had both HPV infection and molluscum contagiosum. It has been shown that keratin 16 levels are lower in HPV 16 infected keratinocytes and that keratin 16 is associated with regulation of inflammation in the skin. What is not clear is whether a keratin 16 mutation increases the risk of a patient developing viral skin infections and we suggest further work is needed.
Commercial support: None identified.
Commercial support: None identified.
Introduction: Folliculosebaceous cystic hamartoma (FSCH) is a cutaneous hamartomatous proliferation consisting of dilated folliculosebaceous units invested in mesenchymal elements. It normally appears in adults and it is usually located on the head or neck. Case report: We present the case of a congenital lesion in a female newborn delivered at 33 weeks after a trigemelar pregnancy. At examination, we detected a large red-colored, well-circumscribed firm tumor, located on her left flank. Doppler ultrasonography did not support the vascular origin of the tumor. A biopsy was taken 50 days after, which was diagnostic for FSCH. When the baby was 6 months old, we made a complete surgical excision of the lesion, which had reached 9 3 5 cm, was performed. The histopathology confirmed the diagnosis. In the 3-month postsurgery revision, the scar had a good aspect, without relapse signs.
AB196
J AM ACAD DERMATOL
MAY 2015