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Emmett T Cunningham - One of the best experts on this subject based on the ideXlab platform.
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complex limbal choristomas in linear Nevus Sebaceous syndrome
Ophthalmology, 1998Co-Authors: Jacque L Duncan, Mahin Golabi, Douglas R Fredrick, Creig S Hoyt, David G Hwang, Steven G Kramer, Edward L Howes, Emmett T CunninghamAbstract:Abstract Objective This study aimed to describe the clinical and histopathologic findings in four patients with complex limbal choristomas associated with linear Nevus Sebaceous syndrome (LNSS), a rare disorder including Nevus Sebaceous, seizures, and mental retardation, and often accompanied by ocular anomalies. Design Small observational case series. Methods A retrospective review of the clinical and histopathologic records of four patients. Results Each of four patients had complex limbal choristomas in the setting of clinical and histopathologic LNSS. The limbal choristomas were multiple in three patients and bilateral in two patients. Most choristomas involved the superotemporal limbus (6 of 10), although nasal (3 of 10) and inferior (1 of 10) limbal tumors also were present. Three patients had significant corneal astigmatism or involvement of the central cornea requiring surgical removal of their choristomas, one accompanied by a lamellar keratoplasty and another accompanied by two consecutive penetrating keratoplasties. Each graft eventually vascularized, reducing vision. One patient's vision was limited by amblyopia and another by occipital cortical dysgenesis with visual impairment. Histopathologic examination of the excised choristomas showed foci of lacrimal gland (3 of 4 patients), adipose tissue (3 of 4), neural tissue (1 of 4), cartilage (1 of 4), lymphoid follicles (1 of 4), skin adnexal tissue (1 of 4), and smooth muscle (1 of 4). Other associated ocular findings included an eyelid mass (1 of 4), colobomas of the eyelid (3 of 4), colobomas of the choroid and retina (2 of 4), nonparalytic strabismus (2 of 4), scleral ectasia (1 of 4), partial oculomotor palsy with ptosis and anisocoria (1 of 4), microphthalmia (1 of 4), and cortical visual impairment (1 of 4). Conclusions Complex limbal choristomas, although rare, can occur in the setting of LNSS and can be associated with multiple ocular and systemic abnormalities. Visual prognosis appears poor in most cases despite aggressive management.
Pallavi Basu - One of the best experts on this subject based on the ideXlab platform.
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Nevus sebaceus with syringocystadenoma papilliferum prurigo nodularis apocrine cystadenoma basaloid follicular proliferation and sebaceoma case report and review of Nevus sebaceus associated conditions
Dermatology Online Journal, 2020Co-Authors: Pallavi Basu, Christof P Erickson, Antoanella Calame, Philip CohenAbstract:: Nevus sebaceus is a benign skin hamartoma of congenital onset that grows during puberty, and in adulthood can develop secondary benign and malignant neoplasms. The most common benign neoplasms occurring in Nevus sebaceus are believed to be syringocystadenoma papilliferum, trichilemmoma, and trichoblastoma. A patient with Nevus sebaceus developed not only syringocystadenoma papilliferum but also prurigo nodularis within her hamartomatous lesion; multiple biopsies were necessary to establish the diagnoses. Excision of the residual Nevus sebaceus also revealed an apocrine cystadenoma, basaloid follicular proliferation, and sebaceoma. Also, it is important to select the appropriate biopsy site and size when evaluating a patient for secondary neoplasms within their Nevus Sebaceous. Indeed, more than one biopsy may be required if additional diagnoses are suspected.
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Nevus sebaceus with syringocystadenoma papilliferum prurigo nodularis apocrine cystadenoma basaloid follicular proliferation and sebaceoma case report and review of Nevus sebaceus associated conditions
Dermatology Online Journal, 2020Co-Authors: Pallavi Basu, Christof P Erickson, Antoanella Calame, Philip R CohenAbstract:Nevus sebaceus is a benign skin hamartoma of congenital onset that grows during puberty, and in adulthood can develop secondary benign and malignant neoplasms. The most common benign neoplasms occurring in Nevus sebaceus are believed to be syringocystadenoma papilliferum, trichilemmoma, and trichoblastoma. A patient with Nevus sebaceus developed not only syringocystadenoma papilliferum but also prurigo nodularis within her hamartomatous lesion; multiple biopsies were necessary to establish the diagnoses. Excision of the residual Nevus sebaceus also revealed an apocrine cystadenoma, basaloid follicular proliferation, and sebaceoma. Also, it is important to select the appropriate biopsy site and size when evaluating a patient for secondary neoplasms within their Nevus Sebaceous. Indeed, more than one biopsy may be required if additional diagnoses are suspected.
Arvind Bagga - One of the best experts on this subject based on the ideXlab platform.
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elevated fgf 23 and parathormone in linear Nevus Sebaceous syndrome with resistant rickets
Pediatric Nephrology, 2010Co-Authors: Sidharth Kumar Sethi, Pankaj Hari, Arvind BaggaAbstract:Sirs, Linear Nevus Sebaceous syndrome (LNSS) is a neuroectodermal disorder, which may be associated with hypophosphatemic rickets in childhood. The pathogenesis of hypophosphatemia is unclear and has been attributed to increased levels of fibroblast growth factor-23 (FGF-23) [1]. We report a patient with LNSS, hypophosphatemic rickets; and high blood levels of FGF-23, immunoglobulin (Ig) E, and parathormone (PTH). A 5-year-old boy, son a non-consanguineous marriage, was referred for increasing skin lesions on face and arms since birth and lower limb deformities. The child was developmentally normal for age. He had clinical and radiological features of rickets and multiple, linear, hyperpigmented plaques following the morphological pattern of Blaschko lines over the right side of his scalp, face, ear, and arms. Investigations showed normal blood levels of creatinine, calcium, and 25-hydroxyvitamin D; low phosphate (1.8–2.0 mg/dl); and raised alkaline phosphatase and parathormone (PTH). There was evidence of phosphate wasting, with low tubular maximum for phosphate reabsorption per glomerular filtration rate (TmP/GFR) (Table 1). Contrast-enhanced computed tomography (CT) of the head was normal. Following a diagnosis of LNSS with hypophosphatemic rickets, he was treated with phosphate supplements at a dose of 750–1,000 mg and alpha calcidiol 0.25 μg every day. The patient reported recently with poor compliance with medications, increasing bony deformities, and enlarging cutaneous nevi. Investigations showed similar blood findings, with low levels of phosphate and TmP/GFR and markedly raised PTH (Table 1). Serum IgE level was 179 IU/ml (normal <60 IU/ml), and FGF-23 was 1,265 pg/ml (normal 10–60 pg/ml). Skeletal survey showed features of osteopenia with rickets and multiple radiolucent cysts over the left third metacarpal, ulna, and femur, as well as bilateral radii. Biopsy of the Nevus showed epidermal papillomatous Sebaceous gland hyperplasia with clusters of primordial hair follicles, suggesting LNSS. Immunohistochemistry for FGF-23 was negative (courtesy Dr. Fukumoto, University of Tokyo). Ultrasonography of the neck and Tc sestamibi scan for parathyroid glands showed no evidence of adenoma. Whole-body positron emission tomography for tumors was negative. The patient is receiving phosphate supplements (1.5 g/day) and alpha calcidiol (0.5 μg/day); phosphate levels range between 2.6–2.8 mg/dl. This patient with LNSS is interesting because we found hypophosphatemia but markedly high levels of PTH and FGF-23, an association that is rarely reported. Aschinberg et al. reported the association between rickets and LNSS, with improvement of musculoskeletal symptoms and hypophosphatemia after excision of the Nevus [3]. Infusion of extract from the Nevus resulted in reduced renal tubular reabsorption of phosphate in animals [3]. The putative phosphatonin was FGF-23 based on demonstration of its elevated blood levels in a patient with LNSS [1]. Hoffman et al. also showed that treatment with octreotide and S.K. Sethi was an IPNA Fellow at All India Institute of Medical Sciences, New Delhi. S. K. Sethi : P. Hari :A. Bagga Division of Pediatric Nephrology, All India Institute of Medical Sciences, New Delhi, India
Toshiro Hara - One of the best experts on this subject based on the ideXlab platform.
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linear Nevus Sebaceous syndrome with hypophosphatemic rickets with elevated fgf 23
Pediatric Nephrology, 2012Co-Authors: Ryo Narazaki, Kenji Ihara, Noriyuki Namba, Hiroshi Matsuzaki, Keiichi Ozono, Toshiro HaraAbstract:Background Linear Nevus Sebaceous syndrome (LNSS) is a rare congenital neuroectodermal disorder characterized by involvement of the skeleton and central nervous system.
Philip R Cohen - One of the best experts on this subject based on the ideXlab platform.
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Nevus sebaceus with syringocystadenoma papilliferum prurigo nodularis apocrine cystadenoma basaloid follicular proliferation and sebaceoma case report and review of Nevus sebaceus associated conditions
Dermatology Online Journal, 2020Co-Authors: Pallavi Basu, Christof P Erickson, Antoanella Calame, Philip R CohenAbstract:Nevus sebaceus is a benign skin hamartoma of congenital onset that grows during puberty, and in adulthood can develop secondary benign and malignant neoplasms. The most common benign neoplasms occurring in Nevus sebaceus are believed to be syringocystadenoma papilliferum, trichilemmoma, and trichoblastoma. A patient with Nevus sebaceus developed not only syringocystadenoma papilliferum but also prurigo nodularis within her hamartomatous lesion; multiple biopsies were necessary to establish the diagnoses. Excision of the residual Nevus sebaceus also revealed an apocrine cystadenoma, basaloid follicular proliferation, and sebaceoma. Also, it is important to select the appropriate biopsy site and size when evaluating a patient for secondary neoplasms within their Nevus Sebaceous. Indeed, more than one biopsy may be required if additional diagnoses are suspected.