No abstract available.
Adenocarcinoma ; Erythema ; Skin Diseases, Genetic

Humans ; Ossification, Heterotopic ; Skin Diseases, Genetic ; Bone Diseases, Metabolic

Reticulate pigmented anomaly of the flexures is a rare autosomal dominant genodermatosis, and this is also known as Dowling-Degos disease. The clinical symptoms are characterized by the progressive evolution of small hyperpigmented macules in a reticulate distribution, and this shows a predilection for the flexural regions, including the axillae, antecubital fossae, inframammary regions, neck and groin. The histopathology of reticulate pigmented anomaly of the flexures typically shows filiform epithelial down-growth of the epidermal rete ridges along with basal hyperpigmentation. We report here on a case of reticulate pigmented anomaly of the flexures in a 45-year-old male who showed multiple, asymptomatic, scaly brownish reticulated macules on the flexural areas.
Axilla ; Groin ; Humans ; Hyperpigmentation ; Male ; Middle Aged ; Neck ; Skin Diseases, Genetic ; Skin Diseases, Papulosquamous

Idiopathic eruptive macular pigmentation is a rare condition characterized by asymptomatic pigmented macules involving the neck, trunk, and proximal portions of the extremities. On histopathologic examination, there was increased pigmentation of the basal layer in otherwise normal epidermis and scattered melanophages in the papillary dermis. We report a case of a 26-year-old woman with idiopathic eruptive macular pigmentation involving only the flexural areas of the body. This condition should be considered in the differential diagnosis of flexural hyperpigmented skin lesions.
Acanthosis Nigricans ; Adult ; Dermis ; Diagnosis, Differential ; Epidermis ; Extremities ; Female ; Humans ; Hyperpigmentation ; Neck ; Pigmentation ; Skin ; Skin Diseases, Genetic ; Skin Diseases, Papulosquamous

Dowling-Degos disease (DDD) is an autosomal dominant genodermatosis and this disease is a genetically determined disturbance of epidermal proliferation. It is characterized by acquired, slowly progressive pigmented lesions that primarily involve the great skin folds and flexural areas such as the axilla, neck, limb flexures, the inframammary area and the inguinal folds. The vulva is an unusual location for DDD. A 41-year-old woman presented with a 10-year history of multiple, small, reticulated and brownish macules distributed symmetrically on the bilateral external genital regions. We found no other similarly pigmented skin lesions on her body, including the flexural areas. There was no known family history of similar eruptions or pigmentary changes. The histologic examination showed irregular rete ridge elongation with a filiform or antler-like pattern and basilar hyperpigmentation on the tips. Fontana-Masson staining showed increased pigmentation of the rete ridges and the S100 protein staining did not reveal an increased number of melanocytes in the epidermis. From these findings, we diagnosed this lesion as DDD.
Adult ; Axilla ; Dichlorodiphenyldichloroethane ; Epidermis ; Extremities ; Female ; Humans ; Hyperpigmentation ; Melanocytes ; Neck ; Pigmentation ; Skin ; Skin Diseases, Genetic ; Skin Diseases, Papulosquamous ; Vulva

The primary localized cutaneous amyloidosis (PLCA) is classified into three types: macular amyloidosis, lichen amyloidosis, and nodular amyloidosis. Macular amyloidosis is characterized by pruritic, hyperpigmented macules and is most commonly located on the interscapular area. Skin lesion usually shows pigmentation with a reticulated or rippled pattern. We report an unusual case of linear macular amyloidosis along the lines of Blaschko. A 74-year-old male is presented with asymptomatic unilateral linear hyperpigmented macules on his right leg for 20 years. Skin biopsy has revealed eosinophilic cytokeratin-positive globular deposits occupying the dermal papillae.
Amyloidosis ; Amyloidosis, Familial ; Biopsy ; Eosinophils ; Humans ; Leg ; Lichens ; Male ; Pigmentation ; Skin ; Skin Diseases, Genetic

Atopic dermatitis (AD) is a multifactorial, chronic inflammatory skin disease in which genetic mutations and cutaneous hyperreactivity to environment stimuli play a role. The skin barrier is known to be damaged in patients with AD, both in acute eczematous lesions and in clinically unaffected skin. Skin barrier function can be impaired first by a genetic predisposition to produce increased levels of stratum corneum chymotryptic enzyme. This protease enzyme causes premature breakdown of corneodesmosomes, leading to damage of the epidermal barrier. The addition of environmental interactions can increase production of stratum corneum chymotryptic enzyme and impair epidermal barrier function. The epidermal barrier can also be damaged by exogenous proteases. One or more of these factors in combination might lead to a defective barriers, after then increasing the risk of allergen penetration and succeeding inflammatory reaction, thus contributing to exacerbations of this disease. The strong association between both genetic barrier defects and environmental factors to the barrier with AD suggests that epidermal barrier dysfunction is a primary event in the development of this disease. New concepts into the relation of the epidermal barrier function and its interaction with components of the innate and adaptive immune responses in patients with AD give rise to novel treatments.
Dermatitis, Atopic ; Genetic Predisposition to Disease ; Humans ; Peptide Hydrolases ; Skin ; Skin Diseases

BACKGROUND: Psoriasis is a chronic, inflammatory, immune- mediated skin disease. Recently, several psoriasis-linked genetic loci have been reported; PSORS4 contains S100A8 (calgranulin A), and PSOR6 (19p13) locus harbors JunB (19p13.2). S100A8 is considered to be a marker of inflammation in a variety of diseases. The expression of JunB and c-Jun have been reported to be reduced in psoriatic lesions. OBJECTIVE: We attempted to assess the role and correlation of S100A8, JunB, and c-Jun in the pathogenesis of guttate psoriasis and psoriasis vulgaris by studying whether any difference of immunohistochemical expression existed. METHODS: Skin biopsy specimens from patients with psoriasis vulgaris (n=37) and guttate psoriasis (n=17), and a normal skin controls (n=9) were utilized in the study. Formalin-fixed and paraffin-embedded tissue sections were prepared and JunB, c-Jun, and calgranulin A were immunohistochemically stained in order to compare the expression of those three proteins in each group. RESULTS: Reduced JunB expression was observed in patients with psoriasis vulgaris and guttate psoriasis, as compared to patients in the control group; however, c-Jun expression was reduced only in the psoriasis vulgaris group. The expression of S100A8 increased in the psoriasis groups as compared to the control group. In addition, the expression of S100A8 was different between the psoriasis vulgaris and guttate psoriasis groups; S100A8 was expressed more profoundly in the guttate psoriasis group (p<0.05). CONCLUSION: Our results indicate that S100A8 contributes to the pathogenesis of guttate psoriasis, and it may be a good target for therapy for guttate psoriasis provoked by microorganisms.
Biopsy ; Calgranulin A ; Genetic Loci ; Humans ; Inflammation ; Proteins ; Psoriasis ; Skin ; Skin Diseases

No abstract available.
Bone Diseases, Metabolic ; Humans ; Infant ; Ossification, Heterotopic ; Osteoma ; Skin Diseases, Genetic

Recurrent annular erythema associated with anti-Ro/La antibody is a diagnostic term for annular erythemas that usually occurs in the face and the upper extremities of patients with positive anti-Ro/La antibodies. They have been reported in patients with Sjogren's syndrome, lupus erythematosus, or Sjogren's syndrome/systemic lupus erythematosus syndrome. Recently, there have been cases without any underlying autoimmune diseases. We, hereby, report an annular erythema, associated with anti-Ro/La antibody occurring in both soles, which is an unusual location for this disease.
Antibodies ; Autoimmune Diseases ; Erythema ; Humans ; Sjogren's Syndrome ; Skin Diseases, Genetic ; Upper Extremity