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Nail involvement in Langerhans cell histiocytosis
P2426
P2428
Nail involvement in Langerhans cell histiocytosis Javier Mataix, Hospital General de Alicante, Alicante, AL, Spain; Isabel Betlloch, MD, PhD, Department of Dermatology, Hospital General de Alicante, Alicante, Spain; Marı´a Pe´rez-Crespo, MD, Department of Dermatology, Hospital General de ´ , MD, Department of Pediatrics, Alicante, Alicante, Spain; Cristina Moscardo Hospital General de Alicante, Alicante, Spain
A case of brachio-oculo-facial syndrome (BOFS) Alberto Alfaro-Rubio, MD, Instituto Valenciano de Oncologia, Valencia, Spain; Onofre Sanmartı´n, MD, Instituto Valenciano de Oncologı´a, Valencia, Spain; Irene Ferrer Bolufer, DPharm, Servicio de Ana´lisis Clı´nicos*. Hospital Virgen de los Lirios, Alcoy, Spain; Luis Hueso Gabriel, MD, Instituto Valenciano de Oncologı´a, Valencia, Spain
Introduction: Langerhans cell histiocytosis (LCH) has a very variable clinical presentation and may involve multiple organ systems, the most common being the skin and the bones. Nail involvement is extremely rare in LCH and has focused attention on their role as an unfavourable prognostic parameter. We recently encountered a 3-year-old female with LCH whose fingernails and toenails were affected by the disease.
Case: A female second child, White race, full term neonate following a normal pregnancy and a caesarean resection is presented. Her size and weight were within normal limits and the mother had no past medical history of great importance. From birth she presented 2 symmetrical bilateral plaques on the lateral side of the neck and so was referred to the Dermatology Service. Clinically the plaques showed a closely limited erosive aspect of 3-4 cm diameter and both were along the sternocleiodomastoid. There were no palpable infiltrates except a right-sided small carneous-like nodular area on the inferior vertex which protruded slightly but showed no sign of suppuration. Clinical exploration revealed a widened nasal bridge, an outlined hare-lip and advanced ear lobes. Ophthalmologic assessment demonstrated right lachrymal duct obstruction. No abnormality was detected on cardio-thoracic-ear, nose, and throat evaluation. Karyotype was 46 XX, normal in females.
Case Report: A 3-year-old female child presented to our department with a 6-month history of asymptomatic nail changes. Nail examination revealed a friable and thickened nail plate. Subungual hyperkeratosis, distal onycholysis, and purpuric striae were also presented. These changes were presented in varying degrees on all 10 fingernails and toenails. The remainder of the physical examination was unremarkable. The patient then developed a purulent otitis media which was unresponsive to multiple antibiotics. At this time, approximately 6 months after her initial visit, she was noted to have very few, small papules, mainly on the trunk. Cranial CT revealed multiple lytic lesions of the right mastoid process. Three biopsies specimens of a small cutaneous papule, matrix, and nail bed of the right middle fingernail and the mastoid bone, respectively, were obtained. All these biopsies showed the characteristic features and phenotype of LCH. Further detailed investigation did not reveal any other visceral involvement. The disease was staged as multisystem disease without evidence of organ dysfunction. A chemotherapy regimen with diary oral prednisone in combination with weekly vinblastine IV bolus was administered. In addition, intralesional corticosteroid injections in the mastoid bone were started. Clinical improvement was obtained since the first cycle. In spite of this, light persistent nail alterations were present on follow-up. Discussion: Our review of the nail involvement in LCH reveals only 14 cases reported to date. To our knowledge, nail involvement has never been described as the initial clinical manifestation of LCH. The clinical features in the nail unit are varied and include purpuric striae, longitudinal grooving, subungual kyperkeratosis, onycholysis and paronyquia. Nail involvement by LCH is usually multiple affecting both fingernails and toenails. Clinical nail changes of LCH are produced by the same pattern of infiltrate as is present in the skin. The efficacy of chemotherapy on the clearance of nail unit disease is variable, and the most important factor in their resolution appeared to be whether the matrix is involved. Although, nail changes appeared usually in the context of multisystem disease with evidence of organ dysfunction, there is little evidence to support the use of nail involvement as an independent prognostic marker. The coincidence with key organ dysfunction appears to carry the worst prognosis in these patients.
Discussion: BOFS is a brachiogenic syndrome characterised by the persistence of the brachial sinus, presence of cervical aplasia cutis, lachrymal duct obstruction, asymmetrical nose with a broad bridge, and lip deformity consistent with pseudo hare-lip as the main features. Since it was first described in 1982 by Fujimoto, different anomalies have been described as also forming part of this syndrome. The main characteristic is cervical lesion along the anterior aspect of the sternocleiodomastoid muscle. This lesion resembles an aplasic hemangiomatous lesion described as the congenital absence of skin. This change, combined with the presence of a persistent branchial sinus in the periauricular area, may be a pathognomonic image of BOFS. The most similar phenotype is the branchiooto-renal syndrome (BORS) although the mutation demonstrated in BORS has not been demonstrated in BOFS and are considered as separate entities. BOFS is transmitted by dominant autosomal form and it is, therefore, important to bear in mind the genetic counsel of such patients. Karyotype is described as normal in all cases up to the moment and was so in our case. Commercial support: None identified.
Commercial support: None identified.
P2429 Aquagenic wrinkling of the palms in an 11-year-old girl Dione Marcus, MD, Henry Ford Hospital, Detroit, MI, United States; Tor Shwayder, MD, Henry Ford Hospital, Detroit, MI, United States
P2427 Neonatal bullous dermatoses: A case presentation and review of the literature Kevin DeHart, DO, Sun Coast Hospital/NOVA Southeastern University, Largo, FL, United States; Richard Miller, DO, Sun Coast Hospital/NOVA Southeastern University, Largo, FL, United States; Panos Vasiloudes, MD, PhD, Academic Alliance in Dermatology, Tampa, FL, United States Bullous lesions are a common skin manifestation and can present anytime throughout life. Their appearance in the neonatal period can be quite distressing and workup reveals a spectrum of diseases ranging from benign and self limited to more serious cutaneous diseases requiring a multidisciplinary approach. We present a case of a 9-day-old neonate with bullous lesions of the upper and lower extremities. Pertinent clinical features and workup will be discussed along with a review of the literature.
We present an 11-year-old girl with a 1-year history of asymptomatic pruning of her palms after brief submersion into water. On exam, the palms developed whitish wrinkled plaques after 3-5 minutes of submersion and spontaneously resolved several minutes after removal from water. Soles were spared. She denied any known history of cystic fibrosis and did not have family members with this history. Aquagenic wrinkling of the palms (AWP) is a rare condition that predominantly affects adolescent and young women, and often occurs in patients with cystic fibrosis. It has previously been referred to as transient reactive papulotranslucent acrokeratoderma, aquagenic keratoderma, aquagenic syringeal acrokeratoderma, and simply wrinkling of the skin. Although the cause of AWP is unknown, it may be secondary to a salt imbalance in the skin, which results in increased water retention. Clinically, it is characterized by the appearance or worsening of small, white or translucent papules coalescing into plaques on the palms. The palmar changes may be asymptomatic or cause pruritic or burning sensations.
Commercial support: None identified.
Commercial support: None identified.
AB160
J AM ACAD DERMATOL
FEBRUARY 2007
P2428
Nail involvement in Langerhans cell histiocytosis Javier Mataix, Hospital General de Alicante, Alicante, AL, Spain; Isabel Betlloch, MD, PhD, Department of Dermatology, Hospital General de Alicante, Alicante, Spain; Marı´a Pe´rez-Crespo, MD, Department of Dermatology, Hospital General de ´ , MD, Department of Pediatrics, Alicante, Alicante, Spain; Cristina Moscardo Hospital General de Alicante, Alicante, Spain
A case of brachio-oculo-facial syndrome (BOFS) Alberto Alfaro-Rubio, MD, Instituto Valenciano de Oncologia, Valencia, Spain; Onofre Sanmartı´n, MD, Instituto Valenciano de Oncologı´a, Valencia, Spain; Irene Ferrer Bolufer, DPharm, Servicio de Ana´lisis Clı´nicos*. Hospital Virgen de los Lirios, Alcoy, Spain; Luis Hueso Gabriel, MD, Instituto Valenciano de Oncologı´a, Valencia, Spain
Introduction: Langerhans cell histiocytosis (LCH) has a very variable clinical presentation and may involve multiple organ systems, the most common being the skin and the bones. Nail involvement is extremely rare in LCH and has focused attention on their role as an unfavourable prognostic parameter. We recently encountered a 3-year-old female with LCH whose fingernails and toenails were affected by the disease.
Case: A female second child, White race, full term neonate following a normal pregnancy and a caesarean resection is presented. Her size and weight were within normal limits and the mother had no past medical history of great importance. From birth she presented 2 symmetrical bilateral plaques on the lateral side of the neck and so was referred to the Dermatology Service. Clinically the plaques showed a closely limited erosive aspect of 3-4 cm diameter and both were along the sternocleiodomastoid. There were no palpable infiltrates except a right-sided small carneous-like nodular area on the inferior vertex which protruded slightly but showed no sign of suppuration. Clinical exploration revealed a widened nasal bridge, an outlined hare-lip and advanced ear lobes. Ophthalmologic assessment demonstrated right lachrymal duct obstruction. No abnormality was detected on cardio-thoracic-ear, nose, and throat evaluation. Karyotype was 46 XX, normal in females.
Case Report: A 3-year-old female child presented to our department with a 6-month history of asymptomatic nail changes. Nail examination revealed a friable and thickened nail plate. Subungual hyperkeratosis, distal onycholysis, and purpuric striae were also presented. These changes were presented in varying degrees on all 10 fingernails and toenails. The remainder of the physical examination was unremarkable. The patient then developed a purulent otitis media which was unresponsive to multiple antibiotics. At this time, approximately 6 months after her initial visit, she was noted to have very few, small papules, mainly on the trunk. Cranial CT revealed multiple lytic lesions of the right mastoid process. Three biopsies specimens of a small cutaneous papule, matrix, and nail bed of the right middle fingernail and the mastoid bone, respectively, were obtained. All these biopsies showed the characteristic features and phenotype of LCH. Further detailed investigation did not reveal any other visceral involvement. The disease was staged as multisystem disease without evidence of organ dysfunction. A chemotherapy regimen with diary oral prednisone in combination with weekly vinblastine IV bolus was administered. In addition, intralesional corticosteroid injections in the mastoid bone were started. Clinical improvement was obtained since the first cycle. In spite of this, light persistent nail alterations were present on follow-up. Discussion: Our review of the nail involvement in LCH reveals only 14 cases reported to date. To our knowledge, nail involvement has never been described as the initial clinical manifestation of LCH. The clinical features in the nail unit are varied and include purpuric striae, longitudinal grooving, subungual kyperkeratosis, onycholysis and paronyquia. Nail involvement by LCH is usually multiple affecting both fingernails and toenails. Clinical nail changes of LCH are produced by the same pattern of infiltrate as is present in the skin. The efficacy of chemotherapy on the clearance of nail unit disease is variable, and the most important factor in their resolution appeared to be whether the matrix is involved. Although, nail changes appeared usually in the context of multisystem disease with evidence of organ dysfunction, there is little evidence to support the use of nail involvement as an independent prognostic marker. The coincidence with key organ dysfunction appears to carry the worst prognosis in these patients.
Discussion: BOFS is a brachiogenic syndrome characterised by the persistence of the brachial sinus, presence of cervical aplasia cutis, lachrymal duct obstruction, asymmetrical nose with a broad bridge, and lip deformity consistent with pseudo hare-lip as the main features. Since it was first described in 1982 by Fujimoto, different anomalies have been described as also forming part of this syndrome. The main characteristic is cervical lesion along the anterior aspect of the sternocleiodomastoid muscle. This lesion resembles an aplasic hemangiomatous lesion described as the congenital absence of skin. This change, combined with the presence of a persistent branchial sinus in the periauricular area, may be a pathognomonic image of BOFS. The most similar phenotype is the branchiooto-renal syndrome (BORS) although the mutation demonstrated in BORS has not been demonstrated in BOFS and are considered as separate entities. BOFS is transmitted by dominant autosomal form and it is, therefore, important to bear in mind the genetic counsel of such patients. Karyotype is described as normal in all cases up to the moment and was so in our case. Commercial support: None identified.
Commercial support: None identified.
P2429 Aquagenic wrinkling of the palms in an 11-year-old girl Dione Marcus, MD, Henry Ford Hospital, Detroit, MI, United States; Tor Shwayder, MD, Henry Ford Hospital, Detroit, MI, United States
P2427 Neonatal bullous dermatoses: A case presentation and review of the literature Kevin DeHart, DO, Sun Coast Hospital/NOVA Southeastern University, Largo, FL, United States; Richard Miller, DO, Sun Coast Hospital/NOVA Southeastern University, Largo, FL, United States; Panos Vasiloudes, MD, PhD, Academic Alliance in Dermatology, Tampa, FL, United States Bullous lesions are a common skin manifestation and can present anytime throughout life. Their appearance in the neonatal period can be quite distressing and workup reveals a spectrum of diseases ranging from benign and self limited to more serious cutaneous diseases requiring a multidisciplinary approach. We present a case of a 9-day-old neonate with bullous lesions of the upper and lower extremities. Pertinent clinical features and workup will be discussed along with a review of the literature.
We present an 11-year-old girl with a 1-year history of asymptomatic pruning of her palms after brief submersion into water. On exam, the palms developed whitish wrinkled plaques after 3-5 minutes of submersion and spontaneously resolved several minutes after removal from water. Soles were spared. She denied any known history of cystic fibrosis and did not have family members with this history. Aquagenic wrinkling of the palms (AWP) is a rare condition that predominantly affects adolescent and young women, and often occurs in patients with cystic fibrosis. It has previously been referred to as transient reactive papulotranslucent acrokeratoderma, aquagenic keratoderma, aquagenic syringeal acrokeratoderma, and simply wrinkling of the skin. Although the cause of AWP is unknown, it may be secondary to a salt imbalance in the skin, which results in increased water retention. Clinically, it is characterized by the appearance or worsening of small, white or translucent papules coalescing into plaques on the palms. The palmar changes may be asymptomatic or cause pruritic or burning sensations.
Commercial support: None identified.
Commercial support: None identified.
AB160
J AM ACAD DERMATOL
FEBRUARY 2007