Subject(s)
Hyperpigmentation , Skin Diseases, Genetic , Skin Diseases, Papulosquamous , Humans , Transcriptome/genetics , Hyperpigmentation/genetics , Hyperpigmentation/pathology , Skin Diseases, Papulosquamous/diagnosis , Skin Diseases, Papulosquamous/genetics , Skin Diseases, Genetic/diagnosis , Skin Diseases, Genetic/genetics , Skin Diseases, Genetic/pathologyABSTRACT
Dowling-Degos disease is a rare benign genodermatosis. It is characterized by lentiginous hyperpigmentation and reddish-brown papules and plaques. The flexor sides and intertrigines are often affected, but the clinical appearance may vary. Mutations in different genes are responsible for the clinical manifestation. While mutations in the keratin 5 (KRT5) gene favor a reticular distribution pattern, mutations in the POGLUT1 gene lead to a disseminated, papular clinical picture. Acantholytic variants of Dowling-Degos disease have historically been referred to as Galli-Galli disease, but our case study shows that the histopathological changes can vary even within a single patient. To date, no standardized therapy concept exists. The main focus is on keratolytic measures, with varying response. New therapeutic approaches using laser technology appear to be a promising treatment option.
Subject(s)
Hyperpigmentation , Skin Diseases, Papulosquamous , Humans , Acantholysis/diagnosis , Acantholysis/genetics , Acantholysis/pathology , Glucosyltransferases/genetics , Hyperpigmentation/genetics , Hyperpigmentation/pathology , Mutation/genetics , Skin Diseases, Papulosquamous/diagnosis , Skin Diseases, Papulosquamous/genetics , Skin Diseases, Papulosquamous/pathologyABSTRACT
Papulosquamous diseases represent a commonly encountered group of cutaneous disorders in dermatology. Lesions can present with papules and plaques in various configurations, including annular forms. Some of these disorders are expected to appear in annular configurations, such as pityriasis rosea and subcorneal pustular dermatosis. Others may either begin as or even progress to annular configurations, including psoriasis vulgaris, seborrheic dermatitis, and nummular dermatitis. We have reviewed common papulosquamous diseases that can present with annular lesions, which includes psoriasis vulgaris, pityriasis rosea, subcorneal pustular dermatosis, contact dermatitis, seborrheic dermatitis, and nummular dermatitis. For each disorder, we have discussed the details of presentation and differential diseases to be considered.
Subject(s)
Dermatitis, Seborrheic , Eczema , Pityriasis Rosea , Psoriasis , Skin Diseases, Papulosquamous , Skin Diseases, Vesiculobullous , Humans , Dermatitis, Seborrheic/diagnosis , Psoriasis/complications , Psoriasis/diagnosis , Skin Diseases, Papulosquamous/diagnosis , Pityriasis Rosea/diagnosis , Skin Diseases, Vesiculobullous/diagnosis , Diagnosis, DifferentialSubject(s)
Elastic Tissue , Skin Diseases, Papulosquamous , Humans , Neck , Skin Diseases, Papulosquamous/diagnosisABSTRACT
ABSTRACT: Dowling-Degos Disease (DDD) is a rare and disfiguring autosomal dominant genodermatosis characterized by reticulate hyperpigmented macules or follicular comedone-like papules in the intertriginous areas that typically presents in the third or fourth decade of life. It is a progressive disease that is often treatment-resistant. Although its association with hidradenitis suppurativa has been well described, DDD has also been less commonly reported in conjunction with other dermatologic diseases with unknown etiologic associations. Herein, we present a case of DDD with associated epidermal inclusion cysts and conduct a literature review of dermatologic conditions reported in association with DDD.
Subject(s)
Epidermal Cyst/pathology , Hyperpigmentation/pathology , Skin Diseases, Genetic/pathology , Skin Diseases, Papulosquamous/pathology , Adult , Epidermal Cyst/diagnosis , Humans , Hyperpigmentation/diagnosis , Male , Skin Diseases, Genetic/diagnosis , Skin Diseases, Papulosquamous/diagnosisSubject(s)
Ear Auricle/pathology , Gout , Skin Diseases, Papulosquamous , Skin Neoplasms/diagnosis , Adrenal Cortex Hormones/therapeutic use , Adult , Anti-Inflammatory Agents, Non-Steroidal/therapeutic use , Biopsy/methods , Diagnosis, Differential , Gout/diagnosis , Gout/pathology , Gout/therapy , Gout Suppressants/therapeutic use , Humans , Male , Skin Diseases, Papulosquamous/diagnosis , Skin Diseases, Papulosquamous/pathology , Uric Acid/isolation & purificationSubject(s)
Hyperpigmentation , Pemphigus , Skin Diseases, Genetic , Skin Diseases, Papulosquamous , Humans , Hyperpigmentation/diagnosis , Hyperpigmentation/genetics , Pemphigus/complications , Pemphigus/diagnosis , Skin Diseases, Genetic/complications , Skin Diseases, Genetic/diagnosis , Skin Diseases, Genetic/genetics , Skin Diseases, Papulosquamous/diagnosis , Skin Diseases, Papulosquamous/geneticsABSTRACT
Dowling-Degos disease is a rare autosomal dominant genodermatosis. It is characterized by acquired reticulate hyperpigmentation over the flexures, comedone-like follicular papules, and pitted perioral scars that usually develop during adulthood. Mutations in genes affecting melanosome transfer, and melanocyte and keratinocyte differentiation have been implicated in the pathogenesis of this disease. These genes include KRT5, POFUT1, POGLUT1 and, most recently, PSENEN. Dowling-Degos disease can be found in isolation or with other associated findings, most notably hidradenitis suppurativa. This condition belongs to a spectrum of conditions that all result in reticulate hyperpigmentation that at times are hard to distinguish from each other. The most closely linked entity is Galli-Galli, which is clinically indistinguishable from Dowling-Degos disease and can only be distinguished by the presence of acantholysis on microscopy. Unfortunately, Dowling-Degos disease is generally progressive and recalcitrant to treatment.
Subject(s)
Hyperpigmentation , Skin Diseases, Genetic , Skin Diseases, Papulosquamous , Acantholysis/diagnosis , Acantholysis/genetics , Adult , Amyloid Precursor Protein Secretases , Fucosyltransferases , Glucosyltransferases , Humans , Hyperpigmentation/diagnosis , Hyperpigmentation/genetics , Keratin-5 , Membrane Proteins , Skin Diseases, Genetic/diagnosis , Skin Diseases, Genetic/genetics , Skin Diseases, Papulosquamous/diagnosis , Skin Diseases, Papulosquamous/geneticsSubject(s)
Fucosyltransferases/genetics , Hidradenitis Suppurativa , Skin Diseases, Genetic , Skin Diseases, Papulosquamous , Adult , Female , Hidradenitis Suppurativa/diagnosis , Hidradenitis Suppurativa/genetics , Humans , Hyperpigmentation , Mutation , Skin Diseases, Genetic/diagnosis , Skin Diseases, Genetic/genetics , Skin Diseases, Papulosquamous/diagnosis , Skin Diseases, Papulosquamous/geneticsSubject(s)
Hyperpigmentation , Skin Diseases, Genetic , Skin Diseases, Papulosquamous , Vulva/pathology , Female , Humans , Hyperpigmentation/diagnosis , Hyperpigmentation/genetics , Middle Aged , Skin Diseases, Genetic/diagnosis , Skin Diseases, Genetic/genetics , Skin Diseases, Papulosquamous/diagnosis , Skin Diseases, Papulosquamous/geneticsABSTRACT
Chronic plaque psoriasis and psoriatic arthritis are multifactorial inter-related diseases with strong genetic contributions. Better elucidation of the heritability of psoriatic disease subsets is important for identifying novel genes, risk stratification and potential clinical applications. In this study, we used two mixed-effect modelling methodologies to assess the additive contribution of common single nucleotide polymorphisms from genome-wide association studies to estimate the heritability of cutaneous psoriasis, psoriasis vulgaris and psoriatic arthritis. We found that cutaneous psoriasis and psoriatic arthritis both exhibit considerable heritability, with a greater contribution coming from cutaneous psoriasis.
Subject(s)
Arthritis, Psoriatic/diagnosis , Arthritis, Psoriatic/genetics , Inheritance Patterns , Psoriasis/diagnosis , Psoriasis/genetics , Skin Diseases, Papulosquamous/diagnosis , Skin Diseases, Papulosquamous/genetics , Age of Onset , Alleles , Case-Control Studies , Diagnosis, Differential , Female , Genetic Association Studies , Genetic Predisposition to Disease , Humans , Male , Polymorphism, Single NucleotideSubject(s)
Skin Ulcer/diagnosis , Skin/microbiology , Syphilis/diagnosis , Treponema pallidum/isolation & purification , Adult , Diagnosis, Differential , Humans , Male , Skin/pathology , Skin Diseases, Papulosquamous/diagnosis , Skin Ulcer/microbiology , Skin Ulcer/pathology , Syphilis/complications , Syphilis/microbiologyABSTRACT
Grover disease (GD) is a benign eruption that causes a papulovesicular rash on the trunk and proximal extremities. It often resolves spontaneously but can follow a more chronic and fluctuating course that may last several years. Although the etiology remains unknown, several associated triggers have been identified including heat and sweating, cool and dry air, renal failure, malignancy, and the initiation of several drugs. Since the disease tends to resolve on its own, management is aimed at disease prevention and symptomatic relief. First-line therapy includes topical steroids and vitamin D analogues with adjuvant antihistamines. In more severe cases that are refractory to less aggressive therapy, systemic corticosteroids, retinoids, and phototherapy may lead to successful resolution. Novel therapies are few and have little evidence but involve innovative use of light therapy and immune modulators. Herein, we review the literature and new trends of GD with a focus on established and novel treatments.