- Email: [email protected]
Collodion baby: Presentation of a clinical case with good outcome
P2010
P2012
Old syndromes, new perspectives: BrookeeSpiegler syndrome Ramon Garcia Ruiz, MD, Consorcio Hospital General Universitario de Valencia, Valencia, Spain; Altea Esteve Martinez, MD, Consorcio Hospital General Universitario de Valencia, Valencia, Spain; Anna Agusti Mejias, MD, Consorcio Hospital General Universitario de Valencia, Valencia, Spain; Juan Jose Vilata Corell, MD, Consorcio Hospital General Universitario de Valencia, Valencia, Spain; Victor Alegre de Miquel, MD, Consorcio Hospital General Universitario de Valencia, Valencia, Spain Background: BrookeeSpiegler syndrome (BSS) is a rare genodermatosis with autosomal dominant inheritance, variable expressivity, and incomplete penetrance. The genetic alteration determines the growth of multiple adnexal neoplasms from the follicular-sebaceous-apocrine unit. Cases: We present two cases in the same family (father and daughter). Both started before 20 years of age, with the progressive appearance of multiple facial nodules that were skin-colored, firm, and slowly growing. These neoplasms predominated the seborrheic areas of the face. A biopsy specimen of one of the father’s tumors confirmed the clinical diagnosis of trichoepithelioma. There were well defined nests of basaloid palisading cells, without cell atypia nor inflammatory infiltrate, and multiple corneal cysts were visible. All of the clinical and histologic findings led us to the final diagnosis of BSS (familiar multiple trichoepitheliomas variant). Review: SBS genetic error involves the CYLD gene. This gene codifies a NF-kB inhibitor which is an adnexal proliferation inductor, BCL3 linked. It is therefore a tumor suppressing gene. This can produce three types of neoplasms: cylindromas, trichoepitheliomas, and spiradenomas. Classification: Classically, familiar cylindromatosis was reserved for patients only showing cylindromas, Familiar multiple trichoepitheliomatosis for those with trichoepitheliomas exclusively, and BSS was for those who showed multiple types of neoplasms. Nowadays, knowing their common genetic anomaly, all this entities are included in the variability of BSS.
Collodion baby: Presentation of a clinical case with good outcome Carmen Martınez Peinado, Hospital Universitario Virgen de las Nieves, Granada, Spain; Jes us Tercedor Sanchez, Hospital Universitario Virgen de las Nieves, Granada, Spain; Paloma Nogueras Morillas, Hospital Universitario Virgen de las Nieves, granada, Spain; Ricardo Ruiz Villaverde, Complejo Hospitalario de Jaen, Jaen, Spain; Valentın Garcıa Mellado, Hospital Universitari Virgen de las Nieves, Granada, Spain
Evolution: Patients present one or more types of neoplasms, starting around puberty, and increasing number and size of lesions progressively. Only cylindromas (to cylindrocarcinoma) and spiradenomas (to spiradenocarcinoma) can transform to malignant variants, so only the patients presenting with these variants require closer follow-up.
Background: Icthyoses is a heterogeneous group of genodermatosis characterized by a disorder of keratinization. Collodion baby is a clinical entity in which the newborn has a thick and transparent membrane that covers its entire body surface and gives a reddish colour and a wet look. This membrane replaces the normal horny layer and important cause impaired skin barrier function, with high transepidermal water loss and increased risk of hypothermia. We describe a newborn who presented with this entity and who had successful development, overcoming the initial complications regarding this disease. Although this is a very rare disease in our clinical practice, it is very important to know its management and the different processes the may be presented in a collodion baby. Case report: We report the case of a premature newborn, second daughter of nonconsanguineous parents with no family history of icthyosis. His sister had a moderate atopic dermatitis in childhood. At birth our patient had a thick skin, taut and shiny, that covered the entire body, with multiple fissures, eversion of the eyelid and lip, folding of the ears, and flexed position of the joints. There was no nail or mucosal involvement. The diagnosis was mainly based on the clinical picture; a skin biopsy specimen is not advisable in the initial stages. From the first day of birth, we applied therapeutic measures for the prevention of immediate complications. Temperature and pain control were performed in the neonatal intensive care unit. The evolution of our case was succesful regarding its an autosomal recessive congenital ichthyosis; just 10% of cases evolve to a normal skin. Discussion: Collodion baby is a rare dermatologic process whose outcome depends on the initial assessment of the patient, skin care, and the possibility of introduction of systemic treatment. We need a multidisciplinary approach regarding the multiple complications associated with prematurity and impaired skin barrier. Genetic counselling is mandatory to manage in all cases of collodion baby. Commercial support: None identified.
Treatment: We need to be conservative, because new tumors will be appearing. We have a lot of options: surgery (the most effective), electro/cryosurgery (simple and economical), erbium-YAG/CO2 laser (great cosmetic results, but many relapses), and radiotherapy (reserve this option for larger fields). Conclusion: BSS is a rare clinical entity we may come across in our daily practice. It is important to be aware of the heterogeneity of neoplasm range and their malignant transformation potential. Commercial support: None identified.
P2013 Variable expression of incontinentia pigmenti in two sisters William Bendure, MS, University of Oklahoma, Oklahoma City, OK, United States; Carlos Garcia, MD, University of Oklahoma, Oklahoma City, OK, United States; Nancy Dawson, MD, University of Oklahoma, Oklahoma City, OK, United States; Roy Rindler, MD, University of Oklahoma, Oklahoma City, OK, United States
P2011 Focal dermal hypoplasia: Report of a Taiwanese case and literature reviews Meng-Chi Wu, MD, Department of Dermatology, National Cheng Kung University Hospital, Tainan, Taiwan; Sheau-Chiou Chao, MD, Department of Dermatology, National Cheng Kung University Hospital, Tainan, Taiwan; Yu-Yun Lee, MD, Department of Dermatology, National Cheng Kung University Hospital, Tainan, Taiwan Focal dermal hypoplasia (FDH), or Goltz syndrome, is a rare X-linked dominant multisystem disorder involving the skin, distal limbs, and eyes. Ninety-five percent of the cases appear de novo, and 90% are females. Recent studies reveal that FDH is caused by mutations in the PORCN gene. The gene encodes membrane bound O-acyltransferase in the endoplasmic reticulum, which is important for Wnt maturation and secretion. Female patients are either heterozygous or mosaic for PORCN mutations, while all male patients are mosaic. About 5% of the female patients analyzed have no any detectable mutations or microdeletions of PORCN gene. We report a sporadic case of FDH in a 16-year-old girl presenting with hypopigmented or erythematous atrophic macules and patches in a whorled pattern distributed along the lines of Blaschko over the trunk and extremities with soft yellowish fat herniations over the left axilla and left groin, and papillomas over the oral and genital areas. Multiple developmental anomalies of the digits and ear were noted. Hypoplasia of the dermis was found histopathologically. Mutation analysis of the PORCN gene using polymerase chain reaction amplification and sequence analysis of all 15 exons revealed no detectable mutation in our patient. To our knowledge, this is the first reported case from Taiwan.
Incontinentia pigmenti (IP) is an X-linked dominant disorder that affects development of ectodermal structures including skin, teeth, hair, and nails. It is typically lethal in affected males. Skin lesions classically progress through four stages: (1) blistering from birth to 4 months; (2) a verrucous phase for several months; (3) swirling linear hyperpigmentation from 6 months to adulthood; and (4) linear hypopigmentation. Diagnosis is based on clinical findings and molecular genetic testing of the IKBKG (NEMO) gene. A common deletion is found in approximately 80% of probands. Management of affected female infants includes standard management of blisters and skin infections, neurologic assessment, screening eye examinations and the treatment of retinal neovascularization, dental care as needed by a pedodontist, and appropriate developmental evaluations. Affected adult females should be offered genetic counseling. We present the case of a 31-yearold woman with history of a rash at birth that evolved into widespread, reticulated, swirling hyperpigmented streaks that cross the midline and respect the lines of Blaschko. She presented to our clinic complaining of a 1-cm firm, round nodule on her right flank that had been present for well over a year and was sensitive to tactile stimulation. The patient had normal IQ and no history of neurologic deficits, dental abnormalities, or retinal abnormalities. The family history was significant for a 27year-old sister (present at the visit) with history of swirling and linear hyperpigmented streaks at birth that became hypopigmented over time. The patient’s mother and a maternal cousin were also reported to have similar skin pigmentation abnormalities. An excess of stillborn babies and spontaneous abortions and a relative paucity of males was seen in the patient’s pedigree. We discuss the variability of features in adult females, examine the currently understood pathophysiology, and review the recommended diagnostic testing strategy for IP.
Commercial support: None identified.
Commercial support: None identified.
AB86
J AM ACAD DERMATOL
FEBRUARY 2011
P2012
Old syndromes, new perspectives: BrookeeSpiegler syndrome Ramon Garcia Ruiz, MD, Consorcio Hospital General Universitario de Valencia, Valencia, Spain; Altea Esteve Martinez, MD, Consorcio Hospital General Universitario de Valencia, Valencia, Spain; Anna Agusti Mejias, MD, Consorcio Hospital General Universitario de Valencia, Valencia, Spain; Juan Jose Vilata Corell, MD, Consorcio Hospital General Universitario de Valencia, Valencia, Spain; Victor Alegre de Miquel, MD, Consorcio Hospital General Universitario de Valencia, Valencia, Spain Background: BrookeeSpiegler syndrome (BSS) is a rare genodermatosis with autosomal dominant inheritance, variable expressivity, and incomplete penetrance. The genetic alteration determines the growth of multiple adnexal neoplasms from the follicular-sebaceous-apocrine unit. Cases: We present two cases in the same family (father and daughter). Both started before 20 years of age, with the progressive appearance of multiple facial nodules that were skin-colored, firm, and slowly growing. These neoplasms predominated the seborrheic areas of the face. A biopsy specimen of one of the father’s tumors confirmed the clinical diagnosis of trichoepithelioma. There were well defined nests of basaloid palisading cells, without cell atypia nor inflammatory infiltrate, and multiple corneal cysts were visible. All of the clinical and histologic findings led us to the final diagnosis of BSS (familiar multiple trichoepitheliomas variant). Review: SBS genetic error involves the CYLD gene. This gene codifies a NF-kB inhibitor which is an adnexal proliferation inductor, BCL3 linked. It is therefore a tumor suppressing gene. This can produce three types of neoplasms: cylindromas, trichoepitheliomas, and spiradenomas. Classification: Classically, familiar cylindromatosis was reserved for patients only showing cylindromas, Familiar multiple trichoepitheliomatosis for those with trichoepitheliomas exclusively, and BSS was for those who showed multiple types of neoplasms. Nowadays, knowing their common genetic anomaly, all this entities are included in the variability of BSS.
Collodion baby: Presentation of a clinical case with good outcome Carmen Martınez Peinado, Hospital Universitario Virgen de las Nieves, Granada, Spain; Jes us Tercedor Sanchez, Hospital Universitario Virgen de las Nieves, Granada, Spain; Paloma Nogueras Morillas, Hospital Universitario Virgen de las Nieves, granada, Spain; Ricardo Ruiz Villaverde, Complejo Hospitalario de Jaen, Jaen, Spain; Valentın Garcıa Mellado, Hospital Universitari Virgen de las Nieves, Granada, Spain
Evolution: Patients present one or more types of neoplasms, starting around puberty, and increasing number and size of lesions progressively. Only cylindromas (to cylindrocarcinoma) and spiradenomas (to spiradenocarcinoma) can transform to malignant variants, so only the patients presenting with these variants require closer follow-up.
Background: Icthyoses is a heterogeneous group of genodermatosis characterized by a disorder of keratinization. Collodion baby is a clinical entity in which the newborn has a thick and transparent membrane that covers its entire body surface and gives a reddish colour and a wet look. This membrane replaces the normal horny layer and important cause impaired skin barrier function, with high transepidermal water loss and increased risk of hypothermia. We describe a newborn who presented with this entity and who had successful development, overcoming the initial complications regarding this disease. Although this is a very rare disease in our clinical practice, it is very important to know its management and the different processes the may be presented in a collodion baby. Case report: We report the case of a premature newborn, second daughter of nonconsanguineous parents with no family history of icthyosis. His sister had a moderate atopic dermatitis in childhood. At birth our patient had a thick skin, taut and shiny, that covered the entire body, with multiple fissures, eversion of the eyelid and lip, folding of the ears, and flexed position of the joints. There was no nail or mucosal involvement. The diagnosis was mainly based on the clinical picture; a skin biopsy specimen is not advisable in the initial stages. From the first day of birth, we applied therapeutic measures for the prevention of immediate complications. Temperature and pain control were performed in the neonatal intensive care unit. The evolution of our case was succesful regarding its an autosomal recessive congenital ichthyosis; just 10% of cases evolve to a normal skin. Discussion: Collodion baby is a rare dermatologic process whose outcome depends on the initial assessment of the patient, skin care, and the possibility of introduction of systemic treatment. We need a multidisciplinary approach regarding the multiple complications associated with prematurity and impaired skin barrier. Genetic counselling is mandatory to manage in all cases of collodion baby. Commercial support: None identified.
Treatment: We need to be conservative, because new tumors will be appearing. We have a lot of options: surgery (the most effective), electro/cryosurgery (simple and economical), erbium-YAG/CO2 laser (great cosmetic results, but many relapses), and radiotherapy (reserve this option for larger fields). Conclusion: BSS is a rare clinical entity we may come across in our daily practice. It is important to be aware of the heterogeneity of neoplasm range and their malignant transformation potential. Commercial support: None identified.
P2013 Variable expression of incontinentia pigmenti in two sisters William Bendure, MS, University of Oklahoma, Oklahoma City, OK, United States; Carlos Garcia, MD, University of Oklahoma, Oklahoma City, OK, United States; Nancy Dawson, MD, University of Oklahoma, Oklahoma City, OK, United States; Roy Rindler, MD, University of Oklahoma, Oklahoma City, OK, United States
P2011 Focal dermal hypoplasia: Report of a Taiwanese case and literature reviews Meng-Chi Wu, MD, Department of Dermatology, National Cheng Kung University Hospital, Tainan, Taiwan; Sheau-Chiou Chao, MD, Department of Dermatology, National Cheng Kung University Hospital, Tainan, Taiwan; Yu-Yun Lee, MD, Department of Dermatology, National Cheng Kung University Hospital, Tainan, Taiwan Focal dermal hypoplasia (FDH), or Goltz syndrome, is a rare X-linked dominant multisystem disorder involving the skin, distal limbs, and eyes. Ninety-five percent of the cases appear de novo, and 90% are females. Recent studies reveal that FDH is caused by mutations in the PORCN gene. The gene encodes membrane bound O-acyltransferase in the endoplasmic reticulum, which is important for Wnt maturation and secretion. Female patients are either heterozygous or mosaic for PORCN mutations, while all male patients are mosaic. About 5% of the female patients analyzed have no any detectable mutations or microdeletions of PORCN gene. We report a sporadic case of FDH in a 16-year-old girl presenting with hypopigmented or erythematous atrophic macules and patches in a whorled pattern distributed along the lines of Blaschko over the trunk and extremities with soft yellowish fat herniations over the left axilla and left groin, and papillomas over the oral and genital areas. Multiple developmental anomalies of the digits and ear were noted. Hypoplasia of the dermis was found histopathologically. Mutation analysis of the PORCN gene using polymerase chain reaction amplification and sequence analysis of all 15 exons revealed no detectable mutation in our patient. To our knowledge, this is the first reported case from Taiwan.
Incontinentia pigmenti (IP) is an X-linked dominant disorder that affects development of ectodermal structures including skin, teeth, hair, and nails. It is typically lethal in affected males. Skin lesions classically progress through four stages: (1) blistering from birth to 4 months; (2) a verrucous phase for several months; (3) swirling linear hyperpigmentation from 6 months to adulthood; and (4) linear hypopigmentation. Diagnosis is based on clinical findings and molecular genetic testing of the IKBKG (NEMO) gene. A common deletion is found in approximately 80% of probands. Management of affected female infants includes standard management of blisters and skin infections, neurologic assessment, screening eye examinations and the treatment of retinal neovascularization, dental care as needed by a pedodontist, and appropriate developmental evaluations. Affected adult females should be offered genetic counseling. We present the case of a 31-yearold woman with history of a rash at birth that evolved into widespread, reticulated, swirling hyperpigmented streaks that cross the midline and respect the lines of Blaschko. She presented to our clinic complaining of a 1-cm firm, round nodule on her right flank that had been present for well over a year and was sensitive to tactile stimulation. The patient had normal IQ and no history of neurologic deficits, dental abnormalities, or retinal abnormalities. The family history was significant for a 27year-old sister (present at the visit) with history of swirling and linear hyperpigmented streaks at birth that became hypopigmented over time. The patient’s mother and a maternal cousin were also reported to have similar skin pigmentation abnormalities. An excess of stillborn babies and spontaneous abortions and a relative paucity of males was seen in the patient’s pedigree. We discuss the variability of features in adult females, examine the currently understood pathophysiology, and review the recommended diagnostic testing strategy for IP.
Commercial support: None identified.
Commercial support: None identified.
AB86
J AM ACAD DERMATOL
FEBRUARY 2011