Cutaneous Symptoms in Primary Immunodeficiencies

Saurat, J.‐H.; Woodley, David T.; Helfer, N.

doi:10.1159/000410144

Cited by 21 publications

(8 citation statements)

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“…Acute graft versus host reaction diagnosed by skin biopsies of exanthems in two infants with a history of blood transfusion suggested the diagnosis of severe combined immunodeficiency. Vasculitis in two of our patients with humoral immunodeficiency has also been reported in C2 deficiency (8).…”

Section: Discussionmentioning

confidence: 99%

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Cutaneous Markers of Primary Immunodeficiency Diseases in Children

Berron-Ruiz¹,

Berrón-Pérez²,

Ruíz-Maldonado³

2000

Pediatric Dermatology

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Primary immunodeficiency diseases (PIDs) are rare but important conditions found predominantly in children. We studied PIDs in a large pediatric hospital, their association with cutaneous alterations, and the importance of cutaneous alterations as diagnostic markers. Among 382,383 pediatric patients, 130 (0.0003%) had a PID: humoral in 27, cellular and combined in 18, phagocytic in 37, and associated with major defects in 45. An average of two cutaneous alterations were present in 90 (69%) patients: infections in 80, eczema-dermatitis in 38, and miscellaneous in 57. In 71 (79%) patients the cutaneous alterations preceded and were the basis for the clinical immunologic diagnosis. Only two PIDs were not associated with cutaneous lesions.

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Section: Discussionmentioning

confidence: 99%

“…Seborrheic dermatitis has an increased frequency in adult patients with AIDS (7). It has previously been reported as an associated feature in PID in children with severe com- bined immunodeficiency, chronic granulomatous disease, tuftsin deficiency, and C5 dysfunction (8). At present, C5 dysfunction is considered nonspecific.…”

Section: Discussionmentioning

confidence: 99%

Cutaneous Markers of Primary Immunodeficiency Diseases in Children

Berron-Ruiz¹,

Berrón-Pérez²,

Ruíz-Maldonado³

2000

Pediatric Dermatology

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“…Interestingly, bone marrow transplantation in children with Wiskott-Aldrich syn drome. a genetic disorder with atopy-like skin lesions, has been found to cause simultaneous disappearance of AD and xerosis [20], Dry skin in atopic subjects is likely to be a phenotypic marker of genetic predisposition to AD and is not generated by a primary defect of keratinisation such as ADI or mild eczematous changes.…”

Section: Discussionmentioning

confidence: 99%

Atopic Dermatitis – Ichthyosis vulgaris – Hyperlinear Palms – an Ultrastructural Study

Fartasch¹,

Diepgen²,

Hornstein³

1989

Dermatology

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Some 30–50% of cases of atopic dermatitis (AD) are believed to be associated with autosomal dominant ichthyosis vulgaris (ADI). The diagnosis of ADI can be proved by the ultrastructural demonstration of fewer and abnormal keratohyalin (KH) granules in all ADI patients, even in clinically unaffected skin. To prove the suggested frequent association of ADI with AD, an ultrastructural investigation of dry skin of 49 AD patients was performed. Only in 2 (4%) patients ADI could be confirmed by electron microscopy. In 17 patients, including the 2 patients with abnormal KH, hyperlinear palms were clinically seen. The present study yields evidence that hyperlinear palms, if present, and dry skin are in most cases a phenotypic marker of AD and not a sign of concomitant ADI. A histologically absent stratum granulosum in AD does not signify by itself a manifestation of concomitant ADI.

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“…ln the 1989 World Health Organization classification of the primary immunodeficiency diseases (3), the Wiskott-Aldrich syndrome (WAS) was considered a congenital immunodeficiency associated with other defects. The primary dermatoiogic manifestation is eczema, which appears in the first six months of life, with clinical features indistinguishable from those of atopic dermatitis described by Hanifm and Rajka (4,5). Bacterial colonization of the eczematous skin and a defect in chemotaxis favor frequent staphylococcal skin infections.…”

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confidence: 98%