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Milia-like idiopathic calcinosis cutis and syringomas in patient with Down syndrome
2062 Milia-like idiopathic calcinosis cutis and syringomas in patient with Down syndrome Danielle Cristine Bonatto, MD, Instituto de Dermatologia Professor Rubem David Azulay da Santa Casa da Miseric ordia do Rio de Janeiro, Rio de Janeiro, Brazil; rica Bertolace Slaibi, MD, Instituto de Dermatologia Professor Rubem David E Azulay da Santa Casa da Miseric ordia do Rio de Janeiro, Rio de Janeiro, Brazil; Bruno Rebelo Lages Silveira, MD, Instituto de Dermatologia Professor Rubem David Azulay da Santa Casa da Miseric ordia do Rio de Janeiro, Rio de Janeiro, Brazil; Mirna Ayusso Teixeira Marquezini, MD, Instituto de Dermatologia Professor Rubem David Azulay da Santa Casa da Miseric ordia do Rio de Janeiro, Rio de Janeiro, Brazil; Bernard Kawa Kac, MD, Instituto de Dermatologia Professor Rubem David Azulay da Santa Casa da Miseric ordia do Rio de Janeiro, Rio de Janeiro, Brazil; Amanda Hertz, MD, Instituto de Dermatologia Professor Rubem David Azulay da Santa Casa da Miseric ordia do Rio de Janeiro, Rio de Janeiro, Brazil; Luna Azulay-Abulafia, PhD, Instituto de Dermatologia Professor Rubem David Azulay da Santa Casa da Miseric ordia do Rio de Janeiro, Rio de Janeiro, Brazil Background: Milia-like idiopathic calcinosis cutis (MICC) is a rare dermatologic disorder, first described in 1978. Has slightly more than 20 cases reported in the literature, among which, two thirds occurred in patients with Down syndrome (DS). Clinically it is characterized by papules smooth surface, firm and whitish, resembling milia, occasionally with central crust that corresponds to the transepidermal elimination of calcium. It mainly affects the back of hands and feet, may occur on wrists, elbows, knees and limbs. The diagnosis is based on clinical suspicion and confirmed by histopathologic examination, with evidence of rounded areas of basophilic material in the upper dermis, in addition to the exclusion of changes in serum calcium and phosphorus and other diseases associated with calcinosis.
the presence of CALs in this population; however, this is the first published report of such patients to our knowledge. It is important to recognize the benign nature of CALs in these patients so that appropriate screening and follow-up recommendations can be made. Commercial support: None identified.
Objective: Describe rare dermatologic entity in the pediatric population and pay attention to the experts about the inclusion of this condition in the differential diagnosis of common skin disorders, like milium, warts and molluscum contagiosum. Case report: Female patient, 12-year-old. Began with the appearance of whitish lesions on the face, back of hands and feet, asymptomatic, since the first year of life. Followed by the appearance on the trunk, upper limbs and knees. Denied any systemic symptoms. History of trisomy 21 and hypothyroidism. Dermatologic examination revealed a whitish papules of hard consistency and symmetrical in periorbital region, upper lip, anterior cervical, periumbilical, buttocks, knees, back of hands and feet. Histopathologic lesions of the lower limb and upper corroborated the hypothesis of cutaneous calcinosis associated with syringoma. Laboratory tests were unchanged. Discussion: The milia-like calcinosis cutis is considered a type of generalized idiopathic calcinosis without causal factor set, having no relation with increased serum calcium and phosphorus. Usually manifests itself in childhood, with frequent association with Down syndrome (DS). Is discussed the possibility of milia-like idiopathic calcinosis be derived calcification of a syringoma or if the presence of such lesions concomitant with the entity would have described a relationship of causality, which syringomas are often observed in patients with trisomy 21. Treatment is expectant, since in most cases there is spontaneous involution of the frame to adulthood. Commercial support: None identified.
1877 Multiple caf e-au-lait spots in a group of fair-skinned children without signs and symptoms of neurofibromatosis-1 Jessica St. John, MPH, MBA, University of Massachusetts Medical School, Worcester, MA, United States; Heather Summe, MD, University of Massachusetts Medical School, Worcester, MA, United States; Courtney Csikesz, MD, University of Massachusetts Medical School, Worcester, MA, United States; Karen Wiss, MD, University of Massachusetts Medical School, Worcester, MA, United States; Leah Belazarian, MD, University of Massachusetts Medical School, Worcester, MA, United States Background: The presence of six or more cafe-au-lait spots (CALs) is a criterion for the diagnosis of neurofibromatosis-1 (NF-1). Children with several CALs are often referred to dermatologists for NF-1 screening, as multiple CALs are commonly the first presenting sign of NF-1. Pediatric dermatologists have long-recognized a subset of fair-complected children with red or blonde hair and multiple feathery CALs who do not meet the criteria for NF-1. There is only brief mention of these patients in the literature. Objective: To characterize this subset of patients in more detail. Methods: Case series. Results: Here we describe 9 patients between the ages of 2 and 15 years with multiple CALs and no other signs or symptoms of NF-1. All patients were evaluated in our Pediatric Dermatology clinic, many in conjunction with a geneticist. Most of these patients had red or blonde hair and were fair-complected. The number of CALs per patient ranged from 3 to 15 with a mean of 8.6 and a median of 9. These CALs were more likely to have feathery or geometric borders compared to those associated with NF-1. Limitations: A case series is not representative of the general population and is limited by its observational nature. Many of these children were not seen in followup for long enough to know if they would eventually meet criteria for NF-1; therefore, later development of additional signs and symptoms of NF-1 cannot be ruled out. Conclusion: Caf e-au-lait spots are often the first presenting sign of neurofibromatosis-1. We describe a subset of children with an increased number of feathery CALs and no other signs and symptoms of NF-1. Most of these children had fair complexions and red or blonde hair. Pediatric dermatologists have long recognized
MAY 2015
301 Multiple, familial, cellular neurothekeomas mimicking molluscum contagiosum John Kelly, MD, PhD, University of Connecticut, Farmington, CT, United States; Arni Kristjansson, MD, University of Connecticut, Farmington, CT, United States; Soheil Dadras, MD, PhD, University of Connecticut, Farmington, CT, United States; Mary Wu Chang, MD, University of Connecticut, Farmington, CT, United States An 11-month old boy was referred by his pediatrician with a 6-month history of multiple, acquired, pink papules and nodules on his face, neck, and trunk. Over this time period new lesions continued to develop, though mature lesions were stable and none had regressed. They were asymptomatic and the infant was otherwise healthy, with no pregnancy or delivery complications. The patient had a 21-year-old brother with similar lesions that had been diagnosed as molluscum contagiosum as a child, but did not respond to treatment and continued to persist. Exam was notable for discrete, 1-10 mm papules and nodules randomly distributed on his face, neck, and trunk; appearance of individual lesions varied from pink and pearly, to moderately erythematous. Darier sign was negative and there was no lymphadenopathy or organomegaly. Biopsy of a representative lesion revealed a dermal proliferation of fibrohistiocytic cells with gray cytoplasm and indistinct borders. Surrounding stroma was sclerotic, with thickened collagen fibers. Immunostaining was positive for CD68, NK1/C3, and factor XIIa; Mart-1, S100, CD1a, CD34, and LCA were negative. The same immunophenotype was found on biopsy of multiple lesions in the patient’s older brother. Taken together these findings are most consistent with a diagnosis of multiple, familial, cellular neurothekeomas. Multiple cellular neurothekeomas have thus far been reported in only two, young, male patients, and our cases are the first to identify a familial link. Clinically these lesions can mimic molluscum contagiosum, adnexal neoplasms, or cutaneous metastases. Establishing the diagnosis of cellular neurothekeoma via the combination of CD68 and MITF positive immunostaining facilitates treatment, as complete surgical excision has proven curative. Commercial support: None identified.
J AM ACAD DERMATOL
AB201
the presence of CALs in this population; however, this is the first published report of such patients to our knowledge. It is important to recognize the benign nature of CALs in these patients so that appropriate screening and follow-up recommendations can be made. Commercial support: None identified.
Objective: Describe rare dermatologic entity in the pediatric population and pay attention to the experts about the inclusion of this condition in the differential diagnosis of common skin disorders, like milium, warts and molluscum contagiosum. Case report: Female patient, 12-year-old. Began with the appearance of whitish lesions on the face, back of hands and feet, asymptomatic, since the first year of life. Followed by the appearance on the trunk, upper limbs and knees. Denied any systemic symptoms. History of trisomy 21 and hypothyroidism. Dermatologic examination revealed a whitish papules of hard consistency and symmetrical in periorbital region, upper lip, anterior cervical, periumbilical, buttocks, knees, back of hands and feet. Histopathologic lesions of the lower limb and upper corroborated the hypothesis of cutaneous calcinosis associated with syringoma. Laboratory tests were unchanged. Discussion: The milia-like calcinosis cutis is considered a type of generalized idiopathic calcinosis without causal factor set, having no relation with increased serum calcium and phosphorus. Usually manifests itself in childhood, with frequent association with Down syndrome (DS). Is discussed the possibility of milia-like idiopathic calcinosis be derived calcification of a syringoma or if the presence of such lesions concomitant with the entity would have described a relationship of causality, which syringomas are often observed in patients with trisomy 21. Treatment is expectant, since in most cases there is spontaneous involution of the frame to adulthood. Commercial support: None identified.
1877 Multiple caf e-au-lait spots in a group of fair-skinned children without signs and symptoms of neurofibromatosis-1 Jessica St. John, MPH, MBA, University of Massachusetts Medical School, Worcester, MA, United States; Heather Summe, MD, University of Massachusetts Medical School, Worcester, MA, United States; Courtney Csikesz, MD, University of Massachusetts Medical School, Worcester, MA, United States; Karen Wiss, MD, University of Massachusetts Medical School, Worcester, MA, United States; Leah Belazarian, MD, University of Massachusetts Medical School, Worcester, MA, United States Background: The presence of six or more cafe-au-lait spots (CALs) is a criterion for the diagnosis of neurofibromatosis-1 (NF-1). Children with several CALs are often referred to dermatologists for NF-1 screening, as multiple CALs are commonly the first presenting sign of NF-1. Pediatric dermatologists have long-recognized a subset of fair-complected children with red or blonde hair and multiple feathery CALs who do not meet the criteria for NF-1. There is only brief mention of these patients in the literature. Objective: To characterize this subset of patients in more detail. Methods: Case series. Results: Here we describe 9 patients between the ages of 2 and 15 years with multiple CALs and no other signs or symptoms of NF-1. All patients were evaluated in our Pediatric Dermatology clinic, many in conjunction with a geneticist. Most of these patients had red or blonde hair and were fair-complected. The number of CALs per patient ranged from 3 to 15 with a mean of 8.6 and a median of 9. These CALs were more likely to have feathery or geometric borders compared to those associated with NF-1. Limitations: A case series is not representative of the general population and is limited by its observational nature. Many of these children were not seen in followup for long enough to know if they would eventually meet criteria for NF-1; therefore, later development of additional signs and symptoms of NF-1 cannot be ruled out. Conclusion: Caf e-au-lait spots are often the first presenting sign of neurofibromatosis-1. We describe a subset of children with an increased number of feathery CALs and no other signs and symptoms of NF-1. Most of these children had fair complexions and red or blonde hair. Pediatric dermatologists have long recognized
MAY 2015
301 Multiple, familial, cellular neurothekeomas mimicking molluscum contagiosum John Kelly, MD, PhD, University of Connecticut, Farmington, CT, United States; Arni Kristjansson, MD, University of Connecticut, Farmington, CT, United States; Soheil Dadras, MD, PhD, University of Connecticut, Farmington, CT, United States; Mary Wu Chang, MD, University of Connecticut, Farmington, CT, United States An 11-month old boy was referred by his pediatrician with a 6-month history of multiple, acquired, pink papules and nodules on his face, neck, and trunk. Over this time period new lesions continued to develop, though mature lesions were stable and none had regressed. They were asymptomatic and the infant was otherwise healthy, with no pregnancy or delivery complications. The patient had a 21-year-old brother with similar lesions that had been diagnosed as molluscum contagiosum as a child, but did not respond to treatment and continued to persist. Exam was notable for discrete, 1-10 mm papules and nodules randomly distributed on his face, neck, and trunk; appearance of individual lesions varied from pink and pearly, to moderately erythematous. Darier sign was negative and there was no lymphadenopathy or organomegaly. Biopsy of a representative lesion revealed a dermal proliferation of fibrohistiocytic cells with gray cytoplasm and indistinct borders. Surrounding stroma was sclerotic, with thickened collagen fibers. Immunostaining was positive for CD68, NK1/C3, and factor XIIa; Mart-1, S100, CD1a, CD34, and LCA were negative. The same immunophenotype was found on biopsy of multiple lesions in the patient’s older brother. Taken together these findings are most consistent with a diagnosis of multiple, familial, cellular neurothekeomas. Multiple cellular neurothekeomas have thus far been reported in only two, young, male patients, and our cases are the first to identify a familial link. Clinically these lesions can mimic molluscum contagiosum, adnexal neoplasms, or cutaneous metastases. Establishing the diagnosis of cellular neurothekeoma via the combination of CD68 and MITF positive immunostaining facilitates treatment, as complete surgical excision has proven curative. Commercial support: None identified.
J AM ACAD DERMATOL
AB201