Congenital disseminated juvenile xanthogranuloma with unusual skin presentation and renal involvement

Kolivras, Athanassios; Theunis, Anne; Saint-Aubain, Nicolas de; Zelger, Bernhard; Saß, Ursula; Dangoisse, Chantal; André, Josette

doi:10.1111/j.1600-0560.2008.01101.x

Cited by 13 publications

(10 citation statements)

References 19 publications

(28 reference statements)

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“…Patients with JXG and neurofibromatosis types 1 and 2, as well as a triad with juvenile chronic myelogenous leukemia, has been reported 26. In contrast to other Xanthomatous diseases, JXG is a normolipemic disorder 18 , 27…”

Section: Discussionmentioning

confidence: 99%

Infantile systemic juvenile xanthogranuloma case with massive liver infiltration

Rodríguez-Velasco¹,

Ortíz-Hidalgo

2019

Autops. Case Rep.

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Infantile systemic juvenile xanthogranuloma (ISJXG) is an uncommon form of juvenile xanthogranuloma, a non-Langerhans cell proliferation of infancy and early childhood. In a small percentage of patients, the visceral involvement—most commonly to the central nervous system, liver, spleen, or lungs—may be associated with severe morbidity, and eventually fatal outcome. Here we describe the clinical and pathological findings of a 28-day-old girl with ISJXG who died with respiratory distress syndrome. She had few cutaneous lesions but massive liver and spleen infiltration; other affected organs were multiple lymph nodes, thoracic parasympathetic nodule, pleura, pancreas, and kidneys. Additional findings were mild pulmonary hypoplasia and bacteremia. Immunohistochemistry on fixed tissues is the standard for diagnosis. Immunophenotype cells express CD14, CD68, CD163, Factor XIIIa, Stabilin-1, and fascin; S100 was positive in less than 20% of the cases; CD1a and langerin were negative. No consistent cytogenetic or molecular genetic defect has been identified. This case demonstrates that the autopsy is a handy tool, because hepatic infiltration, which was not considered clinically, determined a restrictive respiratory impairment. In our opinion, this was the direct cause of death.

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Section: Discussionmentioning

confidence: 99%

Infantile systemic juvenile xanthogranuloma case with massive liver infiltration

Rodríguez-Velasco¹,

Ortíz-Hidalgo

2019

Autops. Case Rep.

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“…We excluded non‐English journal articles, cases without congenital onset, cases without histopathologic confirmation, and cases of systemic JXG without cutaneous congenital JXGs. In total, we identified 31 cases of congenital JXG involving the skin only and 16 cases of congenital JXG with systemic involvement …”

Section: Methodsmentioning

confidence: 99%

Congenital‐type juvenile xanthogranuloma: A case series and literature review

Oza

Stringer

Campbell³

et al. 2018

Pediatric Dermatology

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The medical literature supports that congenital juvenile xanthogranulomas behave in a fashion similar to that of juvenile xanthogranulomas of infancy or childhood. Congenital cutaneous juvenile xanthogranulomas with or without systemic involvement spontaneously regress. The varied clinical presentations in the skin may lead to misdiagnosis, inappropriate examination, and unnecessary treatments. Infants with multiple congenital cutaneous juvenile xanthogranulomas should be evaluated for systemic involvement, with a particular focus on the liver, because 72.2% of these children were found to have hepatic juvenile xanthogranulomas.

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“…In previously published case reports, single or multiple organ involvement of the ocular, hepatic, intestinal, cardiac, bone marrow, pulmonary, splenic, central and peripheric nervous system has been reported [3,8,9,10]. Cases with renal involvement are very rare [3][4][5][6]. No correlation has been established between juvenile xanthogranuloma and the presence or absence of cutaneous lesions [1].…”

Section: Discussıonmentioning

confidence: 99%

“…In a large case study series with systemic involvement, solitary skin lesions accounted for 67%, multiple skin lesions 7%, superficial and deep soft tissue lesions 16%, and skin lesions with or without systemic involvement 5% of all patients [3]. Cases with renal involvement are very rare [3][4][5][6].…”

Section: Introductıonmentioning

confidence: 99%

Extracutaneous Juvenile Xanthogranuloma in an Infant Presenting as a Renal Mass

Ahmedmaulid¹,

Cakir²,

Gün³

et al. 2015

JCR

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Juvenile xanthogranuloma (JXG) is a benign proliferative disorder of dermal dendrocytes which usually presents with skin lesions. Renal involvement is extremely rare. We present a 40 day old female infant. Radiologic imaging techniques revealed a renal mass, prompting a preliminary diagnosis of a renal tumor. Consequently, nephrectomy and histopathological examinations were performed yielding a diagnosis of "JXG". The patient did not exhibit any pathognomonic skin lesions. This case is unique with its unusual clinical presentation. Although renal involvement of JXG is very rare, it should be kept in mind in clinical differential diagnosis in infants and children presenting with renal mass.

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Congenital disseminated juvenile xanthogranuloma with unusual skin presentation and renal involvement

Cited by 13 publications

References 19 publications

Infantile systemic juvenile xanthogranuloma case with massive liver infiltration

Infantile systemic juvenile xanthogranuloma case with massive liver infiltration

Congenital‐type juvenile xanthogranuloma: A case series and literature review

Extracutaneous Juvenile Xanthogranuloma in an Infant Presenting as a Renal Mass

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