2005

DOI: 10.1001/archderm.141.5.647

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Nail Dystrophy Associated With a Heterozygous Mutation of the Nude/SCID Human FOXN1 (WHN) Gene

Luigi Auricchio¹,

Marsilio Adriani²,

et al.

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The Nude/scid Syndrome and Its Associated Skin Abnormalities2

Focus On Ectodermal Abnormalities: Foxn1 and The Skin1

Review1

Winged Helix Nude Deficiency (Whn Deficiency)1

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2006

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Cited by 30 publications

(24 citation statements)

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“…In both patients and nude mice, hair follicles are normal in number but give rise to altered hairs unable to curl and that break off at the level of the skin surface leading to alopecia [7,44]. As for nail dystrophy, the most frequent features were leukonychia and koilonychia (Bspoon nail^), the first one characterized by a proximal arciform alteration of the nail plate and the second one by a concave surface and raised edges of the distal nail plate [45]. Canaliform dystrophy and transverse groove of the nail plate (Beau line) were also noted, although less frequently.…”

Section: Focus On Ectodermal Abnormalities: Foxn1 and The Skinmentioning

confidence: 99%

FOXN1 Deficiency: from the Discovery to Novel Therapeutic Approaches

¹

,

²

,

³

et al. 2017

J Clin Immunol

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Since the discovery of FOXN1 deficiency, the human counterpart of the nude mouse, a growing body of evidence investigating the role of FOXN1 in thymus and skin, has been published. FOXN1 has emerged as fundamental for thymus development, function, and homeostasis, representing the master regulator of thymic epithelial and T cell development. In the skin, it also plays a pivotal role in keratinocytes and hair follicle cell differentiation, although the underlying molecular mechanisms still remain to be fully elucidated. The nude severe combined immunodeficiency phenotype is indeed characterized by the clinical hallmarks of athymia with severe T cell immunodeficiency, congenital alopecia, and nail dystrophy. In this review, we summarize recent discoveries in the field and give interesting perspective about new and promising therapeutic approaches for disorders of immune system with athymia.

“…In both patients and nude mice, hair follicles are normal in number but give rise to altered hairs unable to curl and that break off at the level of the skin surface leading to alopecia [7,44]. As for nail dystrophy, the most frequent features were leukonychia and koilonychia (Bspoon nail^), the first one characterized by a proximal arciform alteration of the nail plate and the second one by a concave surface and raised edges of the distal nail plate [45]. Canaliform dystrophy and transverse groove of the nail plate (Beau line) were also noted, although less frequently.…”

Section: Focus On Ectodermal Abnormalities: Foxn1 and The Skinmentioning

confidence: 99%

FOXN1 Deficiency: from the Discovery to Novel Therapeutic Approaches

¹

,

²

,

³

et al. 2017

J Clin Immunol

Self Cite

View full text Add to dashboard Cite

Since the discovery of FOXN1 deficiency, the human counterpart of the nude mouse, a growing body of evidence investigating the role of FOXN1 in thymus and skin, has been published. FOXN1 has emerged as fundamental for thymus development, function, and homeostasis, representing the master regulator of thymic epithelial and T cell development. In the skin, it also plays a pivotal role in keratinocytes and hair follicle cell differentiation, although the underlying molecular mechanisms still remain to be fully elucidated. The nude severe combined immunodeficiency phenotype is indeed characterized by the clinical hallmarks of athymia with severe T cell immunodeficiency, congenital alopecia, and nail dystrophy. In this review, we summarize recent discoveries in the field and give interesting perspective about new and promising therapeutic approaches for disorders of immune system with athymia.

“…The latter most frequently features proximal arciform leukonychia and koilonychia, although canaliform dystrophy and Beau’s lines have been noted [32]. Nail dystrophy has also been found in heterozygous carriers of FOXN1 mutations [32]. …”

Section: Reviewmentioning

confidence: 99%

FOXN1 deficient nude severe combined immunodeficiency

¹

,

²

2017

Orphanet J Rare Dis

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Nude severe combined immunodeficiency is a rare inherited disease caused by autosomal recessive loss-of-function mutations in FOXN1. This gene encodes a transcription factor essential for the development of the thymus, the primary lymphoid organ that supports T-cell development and selection. To date nine cases have been reported presenting with the clinical triad of absent thymus resulting in severe T-cell immunodeficiency, congenital alopecia universalis and nail dystrophy. Diagnosis relies on testing for FOXN1 mutations, which allows genetic counselling and guides therapeutic management. Options for treating the underlying immune deficiency include HLA-matched genoidentical haematopoietic cell transplantation containing mature donor T-cells or thymus tissue transplantation. Experience from other severe combined immune deficiency syndromes suggests that early diagnosis, supportive care and definitive management result in better patient outcomes. Without these the prognosis is poor due to early-onset life threatening infections.

“…The Nude/SCID syndrome is more severe than the DiGeorge Syndrome, an immunodeficiency due to a complete or partial absence of the thymus, not associated with hairlessness or gross abnormalities in skin annexa. Peculiar features of the Nude/SCID syndrome are ectodermal abnormalities, such as alopecia and nail dystrophy [47]. The first identified mutation of FOXN1 gene responsible in homozigosity for the disease is the C-to-T shift at 792 nucleotide position in the exon 4 (formerly exon 5) of the cDNA sequence.…”

Section: The Nude/scid Syndrome and Its Associated Skin Abnormalitiesmentioning

confidence: 99%

“…These subjects were further examined for ectodermal alterations and showed nail abnormalities, such as the koilonychia (spoon nail), characterized by a concave surface and raised edges of the nail plate and the canaliform dystrophy associated to a transverse groove of the nail plate (Beau line), and the leukonychia (half-moon), characterized by a typical arciform pattern involving the proximal part of the nail plate [47]. This is not surprising, since FOXN1 is selectively expressed in the nail matrix where the nail plate originates, and where it is involved in the maturation process of nails.…”

Section: The Nude/scid Syndrome and Its Associated Skin Abnormalitiesmentioning

confidence: 99%

Unraveling the Link Between Ectodermal Disorders and Primary Immunodeficiencies

¹

,

²

,

³

et al. 2015

International Reviews of Immunology

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Primary immunodeficiencies (PIDs) include a heterogeneous group of mostly monogenic diseases characterized by functional/developmental alterations of the immune system. Skin and skin annexa abnormalities may be a warning sign of immunodeficiency, since both epidermal and thymic epithelium have ectodermal origin. In this review, we will focus on the most common immune disorders associated with ectodermal alterations. Elevated IgE levels represent the immunological hallmark of hyper-IgE syndrome, characterized by severe eczema and susceptibility to infections. Ectodermal dysplasia (ED) is a group of rare disorders that affect tissues of ectodermal origin. Hypoidrotic ED (HED), the most common form, is inherited as autosomal dominant, autosomal recessive or X-linked trait (XLHED). HED and XLHED are caused by mutations in NEMO and EDA-1 genes, respectively, and show similarities in the cutaneous involvement but differences in the susceptibility to infections and immunological phenotype. Alterations in the transcription factor FOXN1 gene, expressed in the mature thymic and skin epithelia, are responsible for human and murine athymia and prevent the development of the T-cell compartment associated to ectodermal abnormalities such as alopecia and nail dystrophy. The association between developmental abnormalities of the skin and immunodeficiencies suggest a role of the skin as a primary lymphoid organ. Recently, it has been demonstrated that a co-culture of human skin-derived keratinocytes and fibroblasts, in the absence of thymic components, can support the survival of human haematopoietic stem cells and their differentiation into T-lineage committed cells.

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