Inherited Reticulate Pigmentary Disorders

Lin, Min; Chou, Po-Ching; Lee, I‐Chen; Yang, Sheau-Fang; Yu, Hsin-Chieh; Yu, Sebastian

doi:10.3390/genes14061300

Cited by 4 publications

(2 citation statements)

References 102 publications

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“…Males manifest a prominent reticulate hyperpigmentation with mottled hypopigmentation and typical facial features, such as upswept frontal hairline and flared eyebrows, with additional systemic manifestations, such as hypohidrosis gastrointestinal inflammation, recurrent respiratory infections, failure to thrive, and photophobia due to corneal opacification. Heterozygous females have milder disease consisting of brown patchy pigmentary skin lesions along the lines of Blaschko (secondary to the clonal proliferation of keratinocytes developed from postzygotic mutations), without systemic manifestations ( 72 , 73 ).…”

Section: Ocular Manifestations In Monogenic Autoinflammatory Diseasesmentioning

confidence: 99%

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Update on ocular manifestations of the main monogenic and polygenic autoinflammatory diseases

Fonollosa,

Carreño,

Vitale

et al. 2024

Front. Ophthalmol.

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Autoinflammatory diseases include disorders with a genetic cause and also complex syndromes associated to polygenic or multifactorial factors. Eye involvement is present in many of them, with different extent and severity. The present review covers ophthalmological lesions in the most prevalent monogenic autoinflammatory diseases, including FMF (familial Mediterranean fever), TRAPS (TNF receptor-associated periodic syndrome), CAPS (cryopyrin-associated periodic syndromes), Blau syndrome, DADA2 (deficiency of adenosine deaminase 2), DITRA (deficiency of the interleukin-36 receptor antagonist), other monogenic disorders, including several ubiquitinopathies, interferonopathies, and the recently described ROSAH (retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and headache) syndrome, and VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome. Among polygenic autoinflammatory diseases, ocular manifestations have been reviewed in Behçet’s disease, PFAPA (periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis) syndrome, Still’s disease and autoinflammatory bone diseases, which encompass CRMO (chronic recurrent multifocal osteomyelitis) and SAPHO (synovitis, acne, pustulosis, hyperostosis and osteitis) syndrome.

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Section: Ocular Manifestations In Monogenic Autoinflammatory Diseasesmentioning

confidence: 99%

“…Males affected by XLRPD may occasionally present with photophobia due to corneal dyskeratosis and opacification ( 73 , 75 ).…”

Section: Ocular Manifestations In Monogenic Autoinflammatory Diseasesmentioning

confidence: 99%

Update on ocular manifestations of the main monogenic and polygenic autoinflammatory diseases

Fonollosa,

Carreño,

Vitale

et al. 2024

Front. Ophthalmol.

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Structural impacts of two disease-linked ADAR1 mutants: a molecular dynamics study

Huang,

Hsu,

Albu

et al. 2024

J Comput Aided Mol Des

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An algorithmic approach towards diagnosis of patients with hereditary reticulate pigmentary disorders: a narrative review

Mohapatra,

Sardana,

Panda

et al. 2024

Clinical and Experimental Dermatology

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Hereditary reticulate pigmentary disorders include a group of genetic disorders with net-like pigmentation as their predominant presentation. Many of these hereditary reticulate pigmentary disorders have a wide array of cutaneous presentations with overlapping features. Furthermore, some of these disorders also have systemic manifestations. The overlapping features often add confusion and cause delay in the diagnosis. Based on the literature search, we propose an easy-to-follow concise diagnostic algorithm for the same. This would aid in ordering a definite genetic test. A thorough data search was done using data base PubMed using the following keywords. It included “‘inherit*’ OR ‘genetic’” AND “reticulate AND pigment*”’. Thereafter, an individual disease search was done using keywords ‘Dowling-Degos disease’, ‘Dyschromatosis Hereditaria Symmetrica’, ‘Acropigmentation of Kitamura’, ‘Dyschromatosis Universalis Hereditaria’, ‘Naegeli–Franceschetti–Jadasssohn syndrome’, ‘X-linked reticulate pigmentary disorder’ and ‘Dyskeratosis congenita’. The search included case reports, series, observational studies, narrative and systematic reviews, clinical trials. Acquired pigmentary disorders were excluded. A total of 1994 articles were retrieved. Finally, 625 articles were included for the review. The articles were narrative review articles (40), case series (23), observational studies (44), and case reports (518). An easy-to-follow clinical diagnostic algorithm based on age of onset, distribution, and other parameters would definitely aid in reaching a provisional diagnosis. And further this approach will help in the genetic workup of a case of hereditary reticulate pigmentary disorder.

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Inherited Reticulate Pigmentary Disorders

Cited by 4 publications

References 102 publications

Update on ocular manifestations of the main monogenic and polygenic autoinflammatory diseases

Update on ocular manifestations of the main monogenic and polygenic autoinflammatory diseases

Structural impacts of two disease-linked ADAR1 mutants: a molecular dynamics study

An algorithmic approach towards diagnosis of patients with hereditary reticulate pigmentary disorders: a narrative review

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