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Comunidad de Especialistas en la piel de los más pequeños

Gray hair and acrodermatitis enteropathica-like dermatitis: an unexpected presentation of cystic fibrosis

Abstract

Presentation of cystic fibrosis (CF) with an acrodermatitis enteropathica-like skin rash, anemia, and hypoproteinemia without pulmonary disease is rarely reported before. We describe an 11-month-old boy with rash and edema as the presenting signs of cystic fibrosis. The interesting additional finding in our patient was the graying hair after 3 months of age. A reversal of the gray hair was observed by pancreatic enzyme replacement therapy. In conclusion, acrodermatitis-like eruption and hypoproteinemia can be a presenting sign of CF. Graying hair has not been noticed so far as a sign of CF in these patients.
Keywords Cystic fibrosis – Dermatitis – Gray hair – Acrodermatitis enteropathica-like dermatitis

 

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Dermoscopy of nevi and melanoma in childhood

Christine Brooks , Alon Scope , Ralph P Braun, and Ashfaq A Marghoob.

 

Dermoscopy is a noninvasive technique that allows for the visualization of subsurface colors and
structures within pigmented melanocytic skin lesions that are otherwise imperceptible to the
naked eye. Dermoscopic findings have been formulated into diagnostic criteria that assist
experienced clinicians in differentiating benign and malignant neoplasms. In essence, dermoscopy
can help identify cutaneous malignancies, while at the same time minimizing the frequency of
unwarranted biopsies of benign cutaneous lesions. In this article, we examine the clinical
morphology of melanocytic nevi and melanoma in the pediatric population, and describe the
relevant dermoscopic findings and histopathologic correlates that aid in the diagnosis and
management of these lesions.
Keywords: acquired melanocytic nevi • blue nevi • congenital melanocytic nevi • dermoscopy • halo nevi
• lentiginous nevus • melanoma • nevus spilus/speckled pediatric •

 

 

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Incontinentia Pigmenti in a Newborn with NEMO Mutation

 

Young Lee,1 Sooyeon Kim,1 Kyunghee Kim,2 and Meayoung Chang2
Abstract

Incontinentia pigmenti (IP) (OMIM #308300) is a rare X-linked dominant neuroectodermal multisystemic syndrome due to mutations in the gene for NF-κB essential modulator (NEMO). A term newborn girl who was born with erythematous vesicular eruptions developed recurrent seizures during the first and second weeks of her life. The serial MRIs demonstrated diffuse, progressive brain infarctions and subsequent encephalomalacia as well as brain atrophy. Skin biopsy found it was consistent with the vesicular stage of IP. Genetic analysis revealed a deletion exon 4-10 in NEMO gene associated with IP. We hereby report a Korean female baby with IP confirmed by mutation analysis of NEMO gene.

Keywords: Incontinentia Pigmenti, NEMO Protein, Brain Infarction, Seizures, Infant, Newborn.

References
1. Steffann J,Raclin V,Smahi A,Woffendin H,Munnich A,Kenwrick SJ,Grebille AG,Benachi A,Dumez Y,Bonnefont JP,Hadj-Rabia S. A novel PCR approach for prenatal detection of the common NEMO rearrangement in incontinentia pigmenti. Prenat Diagn 2004;24:384–388.

2. Bardaro T,Falco G,Sparago A,Mercadante V,Gean Molins E,Tarantino E,Ursini MV,D’Urso M. Two cases of misinterpretation of molecular results in incontinentia pigmenti, and a PCR-based method to discriminate NEMO/IKKgamma dene deletion. Hum Mutat 2003;21:8–11.

3. Smahi A,Courtois G,Vabres P,Yamaoka S,Heuertz S,Munnich A,Israël A,Heiss NS,Klauck SM,Kioschis P,Wiemann S,Poustka A,Esposito T,Bardaro T,Gianfrancesco F,Ciccodicola A,D’Urso M,Woffendin H,Jakins T,Donnai D,Stewart H,Kenwrick SJ,Aradhya S,Yamagata T,Levy M,Lewis RA,Nelson DL. Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium. Nature 2000;405:466–472.

4. Fusco F,Pescatore A,Bal E,Ghoul A,Paciolla M,Lioi MB,D’Urso M,Rabia SH,Bodemer C,Bonnefont JP,Munnich A,Miano MG,Smahi A,Ursini MV. Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations. Hum Mutat 2008;29:595–604.

5. Kim BJ,Shin HS,Won CH,Lee JH,Kim KH,Kim MN,Ro BI,Kwon OS. Incontinentia pigmenti: Clinical observation of 40 Korean cases. J Korean Med Sci 2006;21:474–477.

6. Song MJ,Chae JH,Park EA,Ki CS. The common NF-κB essential modulator (NEMO) gene rearrangement in Korean patients with incontinentia pigmenti. J Korean Med Sci 2010;25:1513–1517.

7. Hsiao PF,Lin SP,Chiang SS,Wu YH,Chen HC,Lin YC. NEMO gene mutations in Chinese patients with incontinentia pigmenti. J Formos Med Assoc 2010;109:192–200.

8. Pacheco TR,Levy M,Collyer JC,de Parra NP,Parra CA,Garay M,Aprea G,Moreno S,Mancini AJ,Paller AS. Incontinentia pigmenti in male patients. J Am Acad Dermatol 2006;55:251.

9. Franco LM,Goldstein J,Prose NS,Selim MA,Tirado CA,Coale MM,McDonald MT. Incontinentia pigmenti in a boy with XXY mosaicism detected by fluorescence in situ hybridization. J Am Acad Dermatol 2006;55:136–138.

10. Kenwrick S,Woffendin H,Jakins T,Shuttleworth SG,Mayer E,Greenhalgh L,Whittaker J,Rugolotto S,Bardaro T,Esposito T,D’Urso M,Soli F,Turco A,Smahi A,Hamel-Teillac D,Lyonnet S,Bonnefont JP,Munnich A,Aradhya S,Kashork CD,Shaffer LG,Nelson DL,Levy M,Lewis RA. International IP Consortium. Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome. The International Incontinentia Pigmenti (IP) Consortium. Am J Hum Genet 2001;69:1210–1217.

11. Maingay-de Groof F,Lequin MH,Roofthooft DW,Oranje AP,de Coo IF,Bok LA,van der Spek PJ,Mancini GM,Govaert PP. Extensive cerebral infarction in the newborn due to incontinentia pigmenti. Eur J Paediatr Neurol 2008;12:284–289.

12. Shuper A,Bryan RN,Singer HS. Destructive encephalopathy in incontinentia pigmenti: a primary disorder?. Pediatr Neurol 1990;6:137–140.

13. Hennel SJ,Ekert PG,Volpe JJ,Inder TE. Insights into the pathogenesis of cerebral lesions in incontinentia pigmenti. Pediatr Neurol 2003;29:148–150.

14. Goldberg MF,Custis PH. Retinal and other manifestations of incontinentia pigmenti (Bloch-Sulzberger Syndrome). Ophthalmology 1993;100:1645–1654.

15. Lee AG,Goldberg MF,Gillard JH,Barker PB,Bryan RN. Intracranial assessment of incontinentia pigmenti using magnetic resonance imaging, angiography, and spectroscopic imaging. Arch Pediatr Adolesc Med 1995;149:573–580.

 

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Gray hair and acrodermatitis enteropathica-like dermatitis: an unexpected presentation of cystic fibrosis

 

Abstract

Presentation of cystic fibrosis (CF) with an acrodermatitis enteropathica-like skin rash, anemia, and hypoproteinemia without pulmonary disease is rarely reported before. We describe an 11-month-old boy with rash and edema as the presenting signs of cystic fibrosis. The interesting additional finding in our patient was the graying hair after 3 months of age. A reversal of the gray hair was observed by pancreatic enzyme replacement therapy. In conclusion, acrodermatitis-like eruption and hypoproteinemia can be a presenting sign of CF. Graying hair has not been noticed so far as a sign of CF in these patients.

Keywords Cystic fibrosis – Dermatitis – Gray hair – Acrodermatitis enteropathica-like dermatitis

 

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Caso Nº 154 Marzo 23, 2011 (Caso con Respuesta)

Caso Nº 154 Marzo 23, 2011 (Caso con Respuesta)

 

 

Niega sintomatología general y acude a consulta para evaluación.

 

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Cual es su diagnóstico ?
Que examenes y procedimientos solicitaría
Que tratamiento sugiere

Francisco Gonzalez
Instituto de Medicina Tropical
UCV. Caracas


 

Respuesta al Caso

Orientamos el caso en base a la Epidemiologia, Clinica como una Lesihmaniasis.
Se realizó Frotis por Aposición : moderada cantidad de Amastigotes.
Leishmanina : 10 mm
Biopsia de piel : epitelio con hiperplasia pseudo carcinomatosa; dermis : granuloma macrofágico con diferenciación epiteliode, con cantidad variable de células plasmáticas y linfocitos que rodean o invaden el granuloma. Presencia de Leishmania
PCR : L. Brasiliensis.

Se inició tratamiento con glucanthime a razon de 20 mg/kg/d por 21 dias de droga base, que equivale a 0,24 ml /kg/d

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