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Generalized vesicular skin lesions presented at birth in a newborn
P7136
P6604
Diagnosis and treatment of congenital erythropoietic porphyria: A case study Carmen Martinez Peinado, Dermatology Department, Granada, Spain; Carmen Herrero, Dermatology Department, Barcelona, Spain; Cristina Diaz, Pediatric Hematology and Oncology Department, Barcelona, Spain; Elisa Morales, Dermatology Department, Granada, Spain; Jesus Tercedor, Dermatology Department, Granada, Spain; Jordi To Figueras, Biochemistry and Molecular Genetics Department, Barcelona, Spain; Paloma Nogueras, Dermatology Department, Granada, Spain Background: Congenital erythropoietic porphyria or G€ unther disease is a rare and severe disorder of heme biosynthesis caused by an autosomal recessive congenital deficiency of the enzyme uroporphyrinogen III synthase. The accumulation of isomer I porphyrins in erythrocytes, plasma, skin and bones, leads to the clinical manifestations. This disease is characterized by extreme photosensitivity, which causes scarring and mutilation associated with haemolysis and others symptoms that determine a short life expectancy. There are different UROS gene mutations that correlate with the phenotype of the disease. Treatment is preventive and symptomatic; only transplantation of haematopoietic precursors is considered curative in severe cases.
Extensive milia in a neonate with congenital malformations: Oral-facialdigital syndrome type 1 Minh Lam, MBBCh, Queen’s Medical Center, Nottingham, United Kingdom; Anna Wilsdon, MBBS, Department of Clinical Genetics, Nottingham, United Kingdom; Esther Burden Teh, MBBS, Queen;s Medical Center, Nottingham, United Kingdom; Jane Ravenscroft, MBBS, Queen;s Medical Center, Nottingham, United Kingdom Case report: A 14-week-old girl was referred with progressive, extensive milia predominantly affecting the face and scalp. She was also noted to have a cleft of the soft palate at birth. Her parents were nonconsanguineous and there was no significant family history. On examination she had multiple pearly white papules consistent with milia distributed predominantly on the face and scalp, but there were also scattered milia on the trunk and limbs. She had mild hypertelorism, a cleft of the soft palate, accessory gingival frenulae and alveolar clefts. There were no abnormalities of the hands or feet and there were no developmental concerns. Ophthalmologic assessment revealed mild hypermetropia and her karyotype was 46, XX. The presence of milia in association with accessory oral frenulae and a cleft palate are highly suggestive of oral-facial-digital syndrome type 1 (OFD1). Molecular analysis of OFD1 is pending.
Case report: We report a case of a 4-month-old patient diagnosed with severe G€ unther disease, who underwent successfully allogeneic bone marrow transplantation at 8 months and he remains asymptomatic after 1 year. We have reviewed in literature all published cases that received haematopoietic stem cell transplantation (HSCT) for this disease. Conclusion: PEC is a rare and potentially devastating disease in which the diagnosis in the neonatal period may be difficult and it should be emphasized the importance of the dermatologist’s assessment, along with other specialists. There is a close relationship between genotype and phenotype, which will be useful to decide the best treatment for each patient including early stem cell transplantation for severe cases to avoid complications. In this way, hematopoietic precursor’s transplantation should be strongly considered because this is the only known curative therapy. But this option also carries a high morbidity and mortality, requiring careful selection of patients.
Discussion: Milia are keratin filled epidermal cysts present in up to 50% of neonates. Although very common, persistent or extensive milia should raise the possibility of a number of underlying genetic disorders including OFD1, Gorlin syndrome, epidermolysis bullosa, Marie Unna hypotrichosis, Basan syndrome, and X-linked BazexDupre-Christol disease. Oral-facial-digital (OFD) syndromes are a group of related conditions that affect the development of the oral cavity, digits and other organs including the brain and kidneys. Current classification includes 11 variants of OFD, with type 1 being the most common. Estimated prevalence of OFD1 is 1 in 50,000 to 1 in 250,000. OFD1 (OMIM #311200) is an X-linked dominant disorder that is usually lethal in males. OFD1 maps to Xp22.3-p22.2. The presence of milia and hypotrichosis makes this subtype of relevance to dermatologists and helps distinguish this variant from other types of OFD, which lack skin and hair findings. Intellectual disability is seen in 50% of individuals with OFD1 and a similar proportion develop polycystic kidney disease after adolescence.
Commercial support: None identified.
Commercial support: None identified.
P6912
P6478
Generalized vesicular skin lesions presented at birth in a newborn Paula Davila-Seijo, MD, Dermatology Department of Complexo Hospitalario de Pontevedra, Pontevedra, Spain; Angeles Florez-Menendez, PhD, Dermatology Department of Complexo Hospitalario de Pontevedra, Pontevedra, Spain; Carlos De la Torre, PhD, Dermatology Department of Complexo Hospitalario de Pontevedra, Pontevedra, Spain; Javier Vilas-Gonzalez, MD, Pediatric Department of Complexo Hospitalario de Pontevedra, Pontevedra, Spain Background: Congenital cutaneous candidiasis (CCC) is a rare disease that results from infection from Candida spp. acquired in utero. Case report: A full-term, 3350-g male infant was delivered by cesarean section to 29year-old healthy woman because of fetal distress. Vaginal candidiasis, diagnosed by culture, was managed with topical therapy during the first trimester of pregnancy. No history of membranes rupture before deliver was recorded. The child presented at birth with generalized erythematous maculopapular and vesicular skin lesions over the face, trunk, and extremities, including palms and soles. The scalp and mucous membranes were spared. The remainder of the physical examination was normal. His white blood cell count was 26,000/mm3 with 71% polymorphonuclear cells, 19% lymphocytes, and 6% eosinophils. Cerebral and abdominal ecography were normal. Cultures of the blood, urine, and spinal fluid were normal. Culture of vesicle exudate was positive to Candida albicans. Skin biopsy revealed intraepidermic pustule dermatitis. Funguses within stratum corneum were showed with periodic acideSchiff stain. Topical ketoconazol was started with progressive resolution of lesions. He was discharged from the hospital on the ninth day of life without sequelae.
Eccrine nevus: Case report in a child Janet Dua, MBBS, Amersham Hospital, Buckinghamshire, United Kingdom; Sophie Grabczynska, MBBS, Amersham Hospital, Buckinghamshire, United Kingdom An eccrine nevus is an extremely rare lesion, of which there have been no more than 20 reports worldwide in the literature. It is characterized by an increase in the number and/or size of eccrine glands, and can cause localised hyperhidrosis. Most present in childhood and adolescence, predominately affecting the forearms. We report an 11-year-old girl who presented with an 8-month history of profuse sweating affecting an isolated area on her right lower forearm. The sweating occurred approximately nine times a day, typically lasting 15 minutes. Attacks arose spontaneously, and were not provoked by emotion, exertion or temperature. She often woke up during the night with her bedsheets soaked around this area. The dripping sweat also affected her ability to do homework and she felt embarrassed by it. She had no significant medical history, and did not recall any previous trauma to this region. Symptoms were not relieved with topical aluminium chloride antiperspirant. On examination she had an area of hyperhidrosis measuring 12 cm 3 8 cm, which was confirmed on a starch and iodine test. The overlying skin appeared normal. A punch biopsy of the affected area revealed a proliferation of eccrine sweat ducts characterized by an increase in the size and number of eccrine coils, suggestive of an eccrine nevus. A punch biopsy taken from an adjacent area of unaffected skin was unremarkable. The clinical manifestations of eccrine nevus are widely variable. They can present as an area of localised hyperhidrosis without overlying cutaneous changes, or with slight hyperpigmentation, papules, nodules, plaques, depressed brownish patches, and a solitary pore. Treatment can be a challenge. Initial therapy includes topical aluminium chloride or anticholinergic medications. There have been case reports of treatment with botulinum toxin and if severe, surgical excision may be a consideration. Our patient is currently undergoing a course of iontophoresis. This case report highlights a rare and potentially distressing cause of localized hyperhidrosis.
Discussion: The CCC is though to appear by the ascension of organism from candidal vulvovaginitis during pregnancy. CCC can produce a clinical spectrum of disease ranging from a cutaneos skin eruption without systemic involvement to a severe systemic disease with a potential risk of neonatal death. Risk factors to CCC are history of maternal candidal vulvogaginitis, intrauterine foreign body, prematurity and low birth weight \1000 g. Premature low birth weight infants show higher risk of systemic involvement. The most common cutaneous presentation is a generalized eruption of erythematous macules, papules, vesicles and pustules that appears within the first six days of birth. Palms and soles are usually affected. Isolated nail dystrophy has also been documented. CCC is diagnosed by the evidence of fungus structures in the skin scrapings and skin biopsy and the positive cultures from lesions. Topical fungal therapy may be used in isolated skin involvement but systemic therapy should be used if systemic disease is suspected. We present a new case of this rare entity with lesions present at birth, in which the only identifiable risk factor, maternal vaginal candidiasis, was diagnosed and treated at the first trimester.
Commercial support: None identified.
Commercial support: None identified.
APRIL 2013
J AM ACAD DERMATOL
AB173
P6604
Diagnosis and treatment of congenital erythropoietic porphyria: A case study Carmen Martinez Peinado, Dermatology Department, Granada, Spain; Carmen Herrero, Dermatology Department, Barcelona, Spain; Cristina Diaz, Pediatric Hematology and Oncology Department, Barcelona, Spain; Elisa Morales, Dermatology Department, Granada, Spain; Jesus Tercedor, Dermatology Department, Granada, Spain; Jordi To Figueras, Biochemistry and Molecular Genetics Department, Barcelona, Spain; Paloma Nogueras, Dermatology Department, Granada, Spain Background: Congenital erythropoietic porphyria or G€ unther disease is a rare and severe disorder of heme biosynthesis caused by an autosomal recessive congenital deficiency of the enzyme uroporphyrinogen III synthase. The accumulation of isomer I porphyrins in erythrocytes, plasma, skin and bones, leads to the clinical manifestations. This disease is characterized by extreme photosensitivity, which causes scarring and mutilation associated with haemolysis and others symptoms that determine a short life expectancy. There are different UROS gene mutations that correlate with the phenotype of the disease. Treatment is preventive and symptomatic; only transplantation of haematopoietic precursors is considered curative in severe cases.
Extensive milia in a neonate with congenital malformations: Oral-facialdigital syndrome type 1 Minh Lam, MBBCh, Queen’s Medical Center, Nottingham, United Kingdom; Anna Wilsdon, MBBS, Department of Clinical Genetics, Nottingham, United Kingdom; Esther Burden Teh, MBBS, Queen;s Medical Center, Nottingham, United Kingdom; Jane Ravenscroft, MBBS, Queen;s Medical Center, Nottingham, United Kingdom Case report: A 14-week-old girl was referred with progressive, extensive milia predominantly affecting the face and scalp. She was also noted to have a cleft of the soft palate at birth. Her parents were nonconsanguineous and there was no significant family history. On examination she had multiple pearly white papules consistent with milia distributed predominantly on the face and scalp, but there were also scattered milia on the trunk and limbs. She had mild hypertelorism, a cleft of the soft palate, accessory gingival frenulae and alveolar clefts. There were no abnormalities of the hands or feet and there were no developmental concerns. Ophthalmologic assessment revealed mild hypermetropia and her karyotype was 46, XX. The presence of milia in association with accessory oral frenulae and a cleft palate are highly suggestive of oral-facial-digital syndrome type 1 (OFD1). Molecular analysis of OFD1 is pending.
Case report: We report a case of a 4-month-old patient diagnosed with severe G€ unther disease, who underwent successfully allogeneic bone marrow transplantation at 8 months and he remains asymptomatic after 1 year. We have reviewed in literature all published cases that received haematopoietic stem cell transplantation (HSCT) for this disease. Conclusion: PEC is a rare and potentially devastating disease in which the diagnosis in the neonatal period may be difficult and it should be emphasized the importance of the dermatologist’s assessment, along with other specialists. There is a close relationship between genotype and phenotype, which will be useful to decide the best treatment for each patient including early stem cell transplantation for severe cases to avoid complications. In this way, hematopoietic precursor’s transplantation should be strongly considered because this is the only known curative therapy. But this option also carries a high morbidity and mortality, requiring careful selection of patients.
Discussion: Milia are keratin filled epidermal cysts present in up to 50% of neonates. Although very common, persistent or extensive milia should raise the possibility of a number of underlying genetic disorders including OFD1, Gorlin syndrome, epidermolysis bullosa, Marie Unna hypotrichosis, Basan syndrome, and X-linked BazexDupre-Christol disease. Oral-facial-digital (OFD) syndromes are a group of related conditions that affect the development of the oral cavity, digits and other organs including the brain and kidneys. Current classification includes 11 variants of OFD, with type 1 being the most common. Estimated prevalence of OFD1 is 1 in 50,000 to 1 in 250,000. OFD1 (OMIM #311200) is an X-linked dominant disorder that is usually lethal in males. OFD1 maps to Xp22.3-p22.2. The presence of milia and hypotrichosis makes this subtype of relevance to dermatologists and helps distinguish this variant from other types of OFD, which lack skin and hair findings. Intellectual disability is seen in 50% of individuals with OFD1 and a similar proportion develop polycystic kidney disease after adolescence.
Commercial support: None identified.
Commercial support: None identified.
P6912
P6478
Generalized vesicular skin lesions presented at birth in a newborn Paula Davila-Seijo, MD, Dermatology Department of Complexo Hospitalario de Pontevedra, Pontevedra, Spain; Angeles Florez-Menendez, PhD, Dermatology Department of Complexo Hospitalario de Pontevedra, Pontevedra, Spain; Carlos De la Torre, PhD, Dermatology Department of Complexo Hospitalario de Pontevedra, Pontevedra, Spain; Javier Vilas-Gonzalez, MD, Pediatric Department of Complexo Hospitalario de Pontevedra, Pontevedra, Spain Background: Congenital cutaneous candidiasis (CCC) is a rare disease that results from infection from Candida spp. acquired in utero. Case report: A full-term, 3350-g male infant was delivered by cesarean section to 29year-old healthy woman because of fetal distress. Vaginal candidiasis, diagnosed by culture, was managed with topical therapy during the first trimester of pregnancy. No history of membranes rupture before deliver was recorded. The child presented at birth with generalized erythematous maculopapular and vesicular skin lesions over the face, trunk, and extremities, including palms and soles. The scalp and mucous membranes were spared. The remainder of the physical examination was normal. His white blood cell count was 26,000/mm3 with 71% polymorphonuclear cells, 19% lymphocytes, and 6% eosinophils. Cerebral and abdominal ecography were normal. Cultures of the blood, urine, and spinal fluid were normal. Culture of vesicle exudate was positive to Candida albicans. Skin biopsy revealed intraepidermic pustule dermatitis. Funguses within stratum corneum were showed with periodic acideSchiff stain. Topical ketoconazol was started with progressive resolution of lesions. He was discharged from the hospital on the ninth day of life without sequelae.
Eccrine nevus: Case report in a child Janet Dua, MBBS, Amersham Hospital, Buckinghamshire, United Kingdom; Sophie Grabczynska, MBBS, Amersham Hospital, Buckinghamshire, United Kingdom An eccrine nevus is an extremely rare lesion, of which there have been no more than 20 reports worldwide in the literature. It is characterized by an increase in the number and/or size of eccrine glands, and can cause localised hyperhidrosis. Most present in childhood and adolescence, predominately affecting the forearms. We report an 11-year-old girl who presented with an 8-month history of profuse sweating affecting an isolated area on her right lower forearm. The sweating occurred approximately nine times a day, typically lasting 15 minutes. Attacks arose spontaneously, and were not provoked by emotion, exertion or temperature. She often woke up during the night with her bedsheets soaked around this area. The dripping sweat also affected her ability to do homework and she felt embarrassed by it. She had no significant medical history, and did not recall any previous trauma to this region. Symptoms were not relieved with topical aluminium chloride antiperspirant. On examination she had an area of hyperhidrosis measuring 12 cm 3 8 cm, which was confirmed on a starch and iodine test. The overlying skin appeared normal. A punch biopsy of the affected area revealed a proliferation of eccrine sweat ducts characterized by an increase in the size and number of eccrine coils, suggestive of an eccrine nevus. A punch biopsy taken from an adjacent area of unaffected skin was unremarkable. The clinical manifestations of eccrine nevus are widely variable. They can present as an area of localised hyperhidrosis without overlying cutaneous changes, or with slight hyperpigmentation, papules, nodules, plaques, depressed brownish patches, and a solitary pore. Treatment can be a challenge. Initial therapy includes topical aluminium chloride or anticholinergic medications. There have been case reports of treatment with botulinum toxin and if severe, surgical excision may be a consideration. Our patient is currently undergoing a course of iontophoresis. This case report highlights a rare and potentially distressing cause of localized hyperhidrosis.
Discussion: The CCC is though to appear by the ascension of organism from candidal vulvovaginitis during pregnancy. CCC can produce a clinical spectrum of disease ranging from a cutaneos skin eruption without systemic involvement to a severe systemic disease with a potential risk of neonatal death. Risk factors to CCC are history of maternal candidal vulvogaginitis, intrauterine foreign body, prematurity and low birth weight \1000 g. Premature low birth weight infants show higher risk of systemic involvement. The most common cutaneous presentation is a generalized eruption of erythematous macules, papules, vesicles and pustules that appears within the first six days of birth. Palms and soles are usually affected. Isolated nail dystrophy has also been documented. CCC is diagnosed by the evidence of fungus structures in the skin scrapings and skin biopsy and the positive cultures from lesions. Topical fungal therapy may be used in isolated skin involvement but systemic therapy should be used if systemic disease is suspected. We present a new case of this rare entity with lesions present at birth, in which the only identifiable risk factor, maternal vaginal candidiasis, was diagnosed and treated at the first trimester.
Commercial support: None identified.
Commercial support: None identified.
APRIL 2013
J AM ACAD DERMATOL
AB173