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2.
Arch. Soc. Esp. Oftalmol ; 94(4): 196-199, abr. 2019. ilus
Article in Spanish | IBECS | ID: ibc-183305

ABSTRACT

El síndrome de Barber-Say es una infrecuente displasia producida por la mutación del gen TWIST2 (2q37.3) que codifica una proteína que actúa a nivel epigenético. Presentamos el caso de un niño de 2 días en el que el ectropion, el hipertelorismo, la hipertricosis y demás rasgos dismórficos condujeron al diagnóstico clínico de síndrome de Barber-Say, posteriormente confirmado genéticamente. Alrededor de 20 casos se han publicado sobre este síndrome; sin embargo, en menos de la mitad se describe la técnica para abordar las malformaciones palpebrales, lo que supuso un reto quirúrgico. Nuestra actuación incluyó una tarsorrafia lateral y la toma de injertos de piel de la superficie palmar del antebrazo, área retroauricular y fosa supraclavicular, así como injertos grasos de la superficie interna de ambos muslos para la reconstrucción palpebral. Se trata del primer caso de síndrome de Barber-Say en el que se utilizan injertos supraclaviculares y del antebrazo


Barber-Say syndrome is an unusual dysplasia caused by the mutation of the TWIST2 gene (2q37.3), which encodes a protein that acts at an epigenetic level. The case is presented of a 2-day-old male child in whom ectropion, hypertelorism, hypertrichosis and other dysmorphic features led to the clinical diagnosis of Barber-Say syndrome, which was later confirmed with genetic tests. Around 20 cases have been reported on this syndrome, of which less than half have described the surgical technique, as it represents a surgical challenge. The approach in this case included a lateral tarsorrhaphy and skin grafts taken from the volar surface of the forearm, retroauricular area and supraclavicular fossa, as well as autologous lipografts from the inner side of both thighs for palpebral reconstruction. This is the first case of Barber-Say syndrome in which the use of skin grafts are taken from supraclavicular fossa and forearms


Subject(s)
Humans , Male , Infant, Newborn , Ectropion/surgery , Hypertelorism/surgery , Hypertrichosis/surgery , Patient Care Team , Plastic Surgery Procedures , Syndrome , Skin Transplantation
3.
Arch Soc Esp Oftalmol (Engl Ed) ; 94(4): 196-199, 2019 Apr.
Article in English, Spanish | MEDLINE | ID: mdl-30455119

ABSTRACT

Barber-Say syndrome is an unusual dysplasia caused by the mutation of the TWIST2 gene (2q37.3), which encodes a protein that acts at an epigenetic level. The case is presented of a 2-day-old male child in whom ectropion, hypertelorism, hypertrichosis and other dysmorphic features led to the clinical diagnosis of Barber-Say syndrome, which was later confirmed with genetic tests. Around 20 cases have been reported on this syndrome, of which less than half have described the surgical technique, as it represents a surgical challenge. The approach in this case included a lateral tarsorrhaphy and skin grafts taken from the volar surface of the forearm, retroauricular area and supraclavicular fossa, as well as autologous lipografts from the inner side of both thighs for palpebral reconstruction. This is the first case of Barber-Say syndrome in which the use of skin grafts are taken from supraclavicular fossa and forearms.


Subject(s)
Blepharoplasty , Eyelid Diseases/surgery , Hirsutism/surgery , Hypertelorism/surgery , Hypertrichosis/surgery , Macrostomia/surgery , Skin Abnormalities/surgery , Humans , Infant, Newborn , Male , Patient Care Team
4.
Arch. Soc. Esp. Oftalmol ; 93(2): 97-100, feb. 2018.
Article in Spanish | IBECS | ID: ibc-172586

ABSTRACT

Caso clínico: Un niño de 7 años con xeroderma pigmentoso presenta una recurrencia de un fibroxantoma atípico conjuntival después de 2 cirugías previas. En esta tercera intervención el paciente es tratado mediante escisión quirúrgica de la tumoración más crioterapia en el lecho. Por el riesgo de recurrencia se asoció en el postoperatorio mitomicina C 0,02% tópica con buen resultado clínico. Discusión: La exéresis quirúrgica con crioterapia y mitomicina C tópica es un tratamiento efectivo en el caso de un fibroxantoma atípico con alto potencial de recurrencia e invasión. Es necesario un seguimiento oftalmológico, así como pediátrico general en estos pacientes y asociar ayudas de apoyo (AU)


Case report: A 7 year-old boy with Xeroderma Pigmentosum (XP) and who presents a recurrent conjunctival atypical fibroxanthoma after two surgeries. This is the third procedure and the patient is treated with a surgical excision of the tumour and cryotherapy at the surgical bed. Due to the risk of recurrence, topical Mitomycin C 0,02% was added at post-operative care achieving a good clinical outcome. Discussion: Surgical exeresis with cryotherapy and topical Mitomycin C is an effective treatment for a case of an atypical fibroxanthoma with a high potential for recurrence and invasion. An ophthalmologic follow-up is required for these patients, as well as general paediatric care and support aids (AU)


Subject(s)
Humans , Male , Child , Xanthomatosis/diagnostic imaging , Xanthomatosis/therapy , Conjunctival Neoplasms/diagnostic imaging , Conjunctival Neoplasms/therapy , Xeroderma Pigmentosum/diagnostic imaging , Xeroderma Pigmentosum/therapy , Xanthomatosis/drug therapy , Xanthomatosis/surgery , Conjunctiva/diagnostic imaging , Conjunctiva/pathology , Neoplasm Recurrence, Local/surgery , Porfiromycin/therapeutic use , Mitomycin/therapeutic use
5.
Arch Soc Esp Oftalmol (Engl Ed) ; 93(2): 97-100, 2018 Feb.
Article in English, Spanish | MEDLINE | ID: mdl-28843705

ABSTRACT

CASE REPORT: A 7 year-old boy with Xeroderma Pigmentosum (XP) and who presents a recurrent conjunctival atypical fibroxanthoma after two surgeries. This is the third procedure and the patient is treated with a surgical excision of the tumour and cryotherapy at the surgical bed. Due to the risk of recurrence, topical Mitomycin C 0,02% was added at post-operative care achieving a good clinical outcome. DISCUSSION: Surgical exeresis with cryotherapy and topical Mitomycin C is an effective treatment for a case of an atypical fibroxanthoma with a high potential for recurrence and invasion. An ophthalmologic follow-up is required for these patients, as well as general paediatric care and support aids.


Subject(s)
Conjunctival Diseases/etiology , Xanthomatosis/etiology , Xeroderma Pigmentosum/complications , Child , Conjunctival Diseases/surgery , Humans , Male , Recurrence , Xanthomatosis/surgery
6.
Rev. esp. pediatr. (Ed. impr.) ; 61(4): 310-312, jul.-ago. 2005.
Article in Spanish | IBECS | ID: ibc-121914

ABSTRACT

La hipercalcemia asociada a necrosis grasa subcutánea del recién nacido es muy poco frecuente. Presentamos a una niña de 5 semanas de edad con hipercalcemia severa (20,6 mg/dl, 5,14 mmol/L), manifestada por poliuria, depleción de volumen y deshidratación aguda grave. Había padecido hipoxia perinatal y su madre tenía diabetes mellitus. La exploración física mostró nódulos subcutáneos en espalda y hombros. Se objetivó nefrocalcinosis por ecografía. Tras la rehidratación se detectó hipertensión arterial. Se trató con hiperhidratación con suero fisiológico, furosemida, nifedipino y dieta baja en calcio. La biopsia de los nódulos confirmó el diagnóstico clínico de necrosis grasa subcutánea. La evolución se complicó con una hemorragia cerebral parenquimatosa. Se discute el diagnóstico diferencial y las estrategias terapéuticas de esta rara entidad (AU)


Hypercalcemia associated with subcutaneous fat necrosis of the newborn is a rare event. We report a 5 week-old female infant with severe hypercalcemia (20.6 mg/dL, 5.14 mmol/LL) presented as polyuria, volume depletion and acute dehydration. She has suffered perinatal hypoxia and her mother had diabetes mellitus. Physical examination showed indurated skin nodules on the back and shoulders. Nephrocalcinosis was detected by ultrasonography. Hypertension arterial was detected after rehydration therapy. Was treated with hyperhidration with isotonic saline, furosemide, nifedipine and a diet low in calcium. Histological examination confirmed the clinical diagnosis of subcutaneous fat necrosis of the newborn. Her evolution was complicated with parenchymal cerebral hemorrhage. We discuss the differential diagnoses and therapeutic strategies of this uncommon disorder (AU)


Subject(s)
Humans , Female , Infant , Hypercalcemia/etiology , Fat Necrosis/complications , Cerebral Hemorrhage/complications , Subcutaneous Fat/physiopathology , Dehydration/physiopathology , Polyuria/etiology , Diagnosis, Differential
7.
Rev. esp. pediatr. (Ed. impr.) ; 61(3): 227-230, mayo-jun. 2005.
Article in Spanish | IBECS | ID: ibc-126887

ABSTRACT

La displasia ectodérmica anhidrótica es una rara enfermedad hereditaria que afecta a los componentes del ectodermo. Se caracteriza por hipohidrosis, hipodoncia, hipotricosis y facies típica. La forma más común tiene herencia ligada al cromosoma X. Es importante el diagnóstico precoz de los varones afectados para prevenir los episodios febriles graves ocasionados por la sudoración disminuida. La escasa secreción de las glándulas mucosas origina mayor frecuencia de infecciones respiratorias, pero la presentación como neumonía recurrente es excepcional. Presentamos a un varónde 2 meses de edad remitido por un episodio de bronquiolitis seguido de problemas de alimentación y neumonía severa. Se descartaron fibrosis quísticas, inmunodeficiencia y transtornos de la deglución. Un mes después reingresa por un segundo espisodio de neumonía llamando ya la atención la facies peculiar, con pelo escaso, e hipopigmentado. Un tío materno padece la enfermedad y la madre tiene hipodoncia. La biopsia de piel mostró la ausencia de glándulas sudoríparas. La biopsia ectodérmica anhidrótica debe incluirse en el diagnóstico diferencial de la neumonía recurrente (AU)


Anhidrotic ectodermal dysplasia is a rare hereditary disorder affecting ectodermally-derived appendages, It is characterized by hypohidrosis, hypodontia, hypotricosis and a typical facies. The X-linked pattern of inheritance is the most common form. Early diagnosis of affected boys is important no avoid episodes of severe fever caused by diminished sweating. Poor secretion from mucous glands results of an increased frequency of respiratory infections. The presentation as recurrent pneumonia is unusual. We present a 2-month-old boy who was refered for one episode of bronchiolitis followed by feeding problems and severe pneumonia. Was excluded the diagnoses of cystic fibrosis, deglution disorder and immunological abnormality. One month later suffer another hospitalization for a second severe pneumonia. The phisical examination revealed characteristic facies and sparse, hypopigmented hair. A maternal uncle of the children had complete features of the disease. The boy´s mother had hypodontia. The skin biopsic show lack of sweat glands. Anhidrotic ectodermal dysplasia should be included in the differential diagnosis of recurrent pneumonia (AU)


Subject(s)
Humans , Male , Infant , Ectodermal Dysplasia/diagnosis , Pneumonia/etiology , Recurrence , Hypohidrosis/complications , Diagnosis, Differential , Risk Factors
8.
Pediatr Dermatol ; 14(5): 383-6, 1997.
Article in English | MEDLINE | ID: mdl-9336812

ABSTRACT

This report describes a neonate with dermal hematopoiesis associated with diffuse hemangiomatosis. The cutaneous lesions consisted of multiple red papules and bluish subcutaneous nodules scattered over his body. The nodules were bluish due to the presence of hematopoietic tissue within the hemangiomas. Although neonatal dermal hematopoiesis has been described with viral infections or hematologic dyscrasias, the association with diffuse hemangiomatosis has not been previously described.


Subject(s)
Erythropoiesis , Hemangioendothelioma/pathology , Skin Neoplasms/pathology , Antineoplastic Agents/therapeutic use , Blood Transfusion , Hemangioendothelioma/therapy , Humans , Infant, Newborn , Interferon alpha-2 , Interferon-alpha/therapeutic use , Male , Recombinant Proteins , Skin Neoplasms/therapy
9.
Med Cutan Ibero Lat Am ; 18(2): 145-7, 1990.
Article in Spanish | MEDLINE | ID: mdl-2214944

ABSTRACT

We present a case of subungueal keratoacanthoma. The tumor recurred three months after extirpation and didn't resolve spontaneously. The patient need a new surgery a year later. We revised the literature and comment the clinical and histological features that define this distinct entity and differentiate it from common keratoacanthoma and subungueal squamous cell carcinoma.


Subject(s)
Keratoacanthoma/pathology , Nail Diseases/pathology , Adult , Humans , Male
10.
Med Cutan Ibero Lat Am ; 16(5): 381-3, 1988.
Article in Spanish | MEDLINE | ID: mdl-3070193

ABSTRACT

We present a seventeen-year-old patient with reticular and confluent papillomatosis. Yeast forms were identified in wet mount preparation of scales with KOH. Although yeast forms disappeared with antifungal therapy, we couldn't obtain clinical improvement. With this presentation we case sustain the theory that P. ovale is not the causal agent of this illness.


Subject(s)
Skin Diseases, Vesiculobullous/pathology , Adolescent , Diagnosis, Differential , Humans , Male , Skin Diseases, Vesiculobullous/etiology
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