Subject(s)
Antibodies, Monoclonal, Humanized , CARD Signaling Adaptor Proteins , Guanylate Cyclase , Humans , CARD Signaling Adaptor Proteins/genetics , Antibodies, Monoclonal, Humanized/therapeutic use , Guanylate Cyclase/genetics , Membrane Proteins/genetics , Phenotype , Skin Diseases, Papulosquamous/drug therapy , Skin Diseases, Papulosquamous/pathology , Skin Diseases, Papulosquamous/genetics , Dermatologic Agents/therapeutic use , Male , FemaleABSTRACT
Papuloerythroderma of Ofuji (PEO) is an uncommon disease characterised by widespread erythroderma composed of intensely pruritic solid papules coalescing into plaques sparing the skin folds (deck-chair sign). The pathogenesis of PEO remains unclear, although T helper (Th) 2 and Th22 cells may play an important role. Dupilumab is an interleukin (IL)-4 receptor α-antagonist that effectively reduces Th2 responses, which has drawn increasing attention in the treatment of PEO patients. Here, we reported a successful case of dupilumab treatment in combination with ultraviolet B (UVB) radiation therapy, which is well known and effective for chronic itch. The patient had a significant decrease in visual analogue scale (VAS) score and eosinophil after only 1 week of treatment, which may be due to the combination effect.
Subject(s)
Dermatitis, Exfoliative , Skin Diseases, Papulosquamous , Ultraviolet Therapy , Humans , Skin Diseases, Papulosquamous/pathology , Dermatitis, Exfoliative/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
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/diagnosisABSTRACT
Miliarial gout is a rare clinical variant of chronic tophaceous gout characterised by tiny milia-like papules containing chalky tophaceous material. In this report, we present a case of miliarial gout in a patient with known history of gouty arthritis and review the reported cases of miliarial gout in the literature to discuss its characteristics, diagnosis and treatment.
Subject(s)
Gout/pathology , Skin Diseases, Papulosquamous/pathology , Humans , Male , Middle Aged , Skin Diseases, Papulosquamous/etiologySubject(s)
Facial Dermatoses/pathology , Sebaceous Glands/pathology , Skin Diseases, Papulosquamous/pathology , Adult , Atrophy , Female , HumansSubject(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)
Acantholysis/pathology , Keratosis/pathology , Skin Diseases, Papulosquamous/pathology , Acantholysis/drug therapy , Betamethasone/therapeutic use , Calcitriol/therapeutic use , Female , Humans , Keratosis/drug therapy , Middle Aged , Skin Diseases, Papulosquamous/drug therapy , Treatment OutcomeABSTRACT
Dowling-Degos disease (DDD) is a rare autosomal-dominant genodermatosis and it has been associated with hidradenitis suppurativa (HS). Deregulation of NOTCH pathway has been linked to the development of HS in DDD context (DDD-HS). However, molecular alterations in DDD-HS, including altered gene expression of NOTCH and downstream effectors that are involved in the follicular differentiation and inflammatory response, are poorly defined. We report two cases of patients diagnosed with DDD-HS, one of those, under Adalimumab treatment. Our results have shown downregulation of NOTCH1/NCSTN pathway, distinct molecular profiles of inflammatory cytokines (IL23A and TNF), and a novel aberrant upregulation of genes involved in the cornified envelope (CE) formation (SPRR1B, SPRR2D, SPRR3, and IVL) in paired HS lesions of two DDD patients.
Subject(s)
Cytokines/metabolism , Gene Expression Regulation , Hidradenitis Suppurativa/pathology , Hyperpigmentation/pathology , Inflammation Mediators/metabolism , Receptor, Notch1/metabolism , Skin Diseases, Genetic/pathology , Skin Diseases, Papulosquamous/pathology , Adult , Amyloid Precursor Protein Secretases/genetics , Amyloid Precursor Protein Secretases/metabolism , Cornified Envelope Proline-Rich Proteins/genetics , Cornified Envelope Proline-Rich Proteins/metabolism , Female , Hidradenitis Suppurativa/complications , Hidradenitis Suppurativa/genetics , Hidradenitis Suppurativa/metabolism , Humans , Hyperpigmentation/complications , Hyperpigmentation/genetics , Hyperpigmentation/metabolism , Membrane Glycoproteins/genetics , Membrane Glycoproteins/metabolism , Middle Aged , Prognosis , Receptor, Notch1/genetics , Skin Diseases, Genetic/complications , Skin Diseases, Genetic/genetics , Skin Diseases, Genetic/metabolism , Skin Diseases, Papulosquamous/complications , Skin Diseases, Papulosquamous/genetics , Skin Diseases, Papulosquamous/metabolismABSTRACT
BACKGROUND: The biophysical and ultrasonographic properties of the skin change in papulosquamous diseases. AIMS: : To identify biophysical and ultrasonographic properties for the differentiation of five main groups of papulosquamous skin diseases. METHODS: Fifteen biophysical and ultrasonographic parameters were measured by multiprobe adapter system and high-frequency ultrasonography in active lesions and normal control skin in patients with chronic eczema, psoriasis, lichen planus, pityriasis rosea and parapsoriasis/mycosis fungoides. Using histological diagnosis as a gold standard, a decision tree analysis was performed based on the mean percentage changes of these parameters [(lesion-control/control) ×100] for differentiation of the diseases. RESULTS: The accuracy of the decision tree model for differentiation of five diseases was 67% which developed based on changes in stratum corneum hydration, epidermal thickness, skin pH, melanin index, R0 (reciprocal of firmness) and erythema. Among the flowcharts for pairs of diseases, three models for differentiation had high accuracy (> 95%): those of psoriasis from lichen planus, pityriasis rosea, and parapsoriasis/mycosis fungoides. LIMITATIONS: Validation studies on a larger sample size in situations where the diagnosis is unclear are needed to confirm the accuracy and applicability of decision trees. CONCLUSION: Skin biophysical and ultrasonographic properties may help in the differentiation of papulosquamous diseases as simple and non-invasive tools.
Subject(s)
Decision Trees , Skin Diseases, Papulosquamous/diagnostic imaging , Skin Diseases, Papulosquamous/pathology , Adult , Biometry , Female , Humans , Male , Middle Aged , Sensitivity and Specificity , Skin Diseases, Papulosquamous/physiopathology , Skin Physiological Phenomena , Ultrasonography , Young AdultABSTRACT
Lichen planus follicularis tumidus (LPFT) is a rare clinicopathological variant of lichen planus (LP), clinically presenting with red-to-violaceous plaques studded with comedo-like lesions and keratin-filled milia-like cysts. Histopathologically, LPFT is characterized by cystically dilated follicular infundibula in the dermis, surrounded by a dense lichenoid lymphoid infiltrate with an associated interface reaction. We describe the clinicopathological features of an additional case of LPFT, focusing on the number and distribution of CD123(+) TCF4(+) plasmacytoid dendritic cells (pDCs). In our case, pDCs represented approximately 5% of the total inflammatory infiltrate, predominantly exhibiting a lichenoid distribution around the infundibula with no evidence of cluster formation, thus ruling out cutaneous lupus erythematosus. Our report is the first to describe the number and distribution of pDCs in LPFT. The results of our immunohistochemical analysis corroborate the notion that LPFT should be regarded as a rare variant of LP.
Subject(s)
Dendritic Cells/pathology , Lichen Planus/pathology , Skin Diseases, Papulosquamous/pathology , Biopsy/methods , Dendritic Cells/metabolism , Diagnosis, Differential , Humans , Immunohistochemistry/methods , Immunophenotyping/methods , Interleukin-3 Receptor alpha Subunit/metabolism , Lichen Planus/diagnosis , Lichen Planus/genetics , Lupus Erythematosus, Cutaneous/diagnosis , Male , Middle Aged , Transcription Factor 4/metabolismABSTRACT
Abstract White fibrous papulosis of the neck is a rare entity, with fewer than 50 cases described. It is a benign pathology whose main interest lies in its broad differential diagnosis, especially with pseudoxanthoma elasticum. The authors report the case of a 77-year-old woman with multiple yellow-white monomorphic papules on the posterior cervical region, with years of evolution. Cutaneous biopsy revealed a nodular area in the superficial and middle reticular dermis, with slight thickening of the collagen fibers and focally enlarged elastic fibers, aspects highlighted in the Verhoeff staining that additionally showed absence of elastic fibers in the papillary dermis.
Subject(s)
Humans , Female , Aged , Skin Diseases, Papulosquamous/pathology , Neck/pathology , Biopsy , Fibrosis , Dermis/pathology , Elastic Tissue/pathologyABSTRACT
White fibrous papulosis of the neck is a rare entity, with fewer than 50 cases described. It is a benign pathology whose main interest lies in its broad differential diagnosis, especially with pseudoxanthoma elasticum. The authors report the case of a 77-year-old woman with multiple yellow-white monomorphic papules on the posterior cervical region, with years of evolution. Cutaneous biopsy revealed a nodular area in the superficial and middle reticular dermis, with slight thickening of the collagen fibers and focally enlarged elastic fibers, aspects highlighted in the Verhoeff staining that additionally showed absence of elastic fibers in the papillary dermis.