Mutation analysis of the KRT5 gene in a Chinese pedigree with Dowling-Degos disease / 中华皮肤科杂志

Objective:To investigate mutations in the KRT5 gene in a pedigree with Dowling-Degos disease.Methods:Clinical data were collected from the proband, and a survey was conducted in 12 members in 3 generations of the family. Peripheral blood samples were obtained from the proband, 8 family members and 50 unrelated healthy individuals, genomic DNA was extracted for whole-exome sequencing, and sequencing results were compared with the published sequences of human KRT5, POFUT1 and POGLUT1 genes.Results:There were 3 patients in this family, including the proband, his father and deceased grandmother. The proband and his father clinically presented with reticular pigmentation in the skinfolds, especially the chest and abdomen skinfolds. A novel heterozygous nonsense mutation c.165T>A was identified in exon 1 of the KRT5 gene in the proband and his father, but not in other family members or healthy controls. No abnormality was found in the POFUT1 or POGLUT1 gene in any subjects.Conclusion:A novel heterozygous nonsense mutation c.165T>A was identified in the KRT5 gene, and may contribute to the clinical phenotype of the proband and his father with Dowling-Degos disease.

A Case of Dowling-degos Disease Affecting the Vulva / 대한피부과학회지

No abstract available.

Dowling-Degos disease: a therapeutic challenge: report of a family with no response to laser treatments

La enfermedad de Dowling-Degos (DDD), conocida también como 'anomalía reticulada y pigmentada de las flexuras' es una rara genodermatosis autosómica dominante. Se caracteriza por la aparición de máculas hiperpigmentadas de configuración reticulada; afectando principalmente los grandes pliegues como las axilas e ingles. Pudiendo, además, comprometer otros pliegues como cervicales, antecubitales, submamarios e interglúteos. Otras características asociadas son las lesiones tipo comedones y los pits palmo-plantares. Presentamos el caso de una familia con enfermedad de Dowling-Degos sin respuesta al tratamiento con laser Nd:YAG y CO2. Se realiza una revisión de la literatura de los tratamientos disponibles.

Dowling-Degos disease (DDD), also known as "reticulate pigmented anomaly of the flexures", is a rare autosomal dominant genodermatosis. DDD is characterized by an acquired reticular skin hyperpigmentation which begins in the axillae and groin. It later involves other body folds, including neck, inner aspects of the arms and thighs, inframammary, and intergluteal folds. Associated features include comedolike lesions on the neck or back, pitted facial or perioral scars, and epidermoid cysts. Herein we present a family (proband, mother, grandmother) with DDD that were treated with Q-switched Nd:YAG laser and CO2 laser without response. Treatment options are discussed and the available literature is reviewed.

Follicular Dowling Degos disease: A rare variant of an evolving dermatosis.

Dowling Degos disease is a rare, reticulate pigmentary disorder with variable phenotypic expression that manifests as hyperpigmented macules and reticulate pigmentary anomaly of the fl exures. Many variants of this condition and its overlap with other reticulate pigmentary disorders have been reported in the literature. We present here two cases of DDD with follicular localization, both clinically and histologically. It was associated with ichthyosis vulgaris in one case. Follicular DDD is an uncommon variant of this evolving dermatosis. Our report supports the possible role for disordered follicular keratinisation in its pathogenesis.

Generalized Dowling-Degos Disease: Case Reports

Dowling-Degos disease (DDD) is a rare autosomal dominant trait characterized by numerous, symmetrical, progressive and pigmented macules over the axillae, groins, face, neck, arms and trunk as well as scattered comedo-like lesions (dark dot, follicles) and pitted acneiform scars. Histopathology is diagnostic testing using a distinctive form of acanthosis, characterized by an irregular elongation of thin branching rete ridges, with a concentration of melanin at the tips. We report cases of generalized DDD in a single family with autosomal dominant penetrance. DDD can be presented in a generalized form with hypopigmented lesions instead of reticulate hyperpigmentation confined to the flexor areas. This form can be differentiated from DUH by histopathology.

Generalized Dowling-Degos Disease: Case Reports

Dowling-Degos disease (DDD) is a rare autosomal dominant trait characterized by numerous, symmetrical, progressive and pigmented macules over the axillae, groins, face, neck, arms and trunk as well as scattered comedo-like lesions (dark dot, follicles) and pitted acneiform scars. Histopathology is diagnostic testing using a distinctive form of acanthosis, characterized by an irregular elongation of thin branching rete ridges, with a concentration of melanin at the tips. We report cases of generalized DDD in a single family with autosomal dominant penetrance. DDD can be presented in a generalized form with hypopigmented lesions instead of reticulate hyperpigmentation confined to the flexor areas. This form can be differentiated from DUH by histopathology.

A Case of Dowling-Degos Disease on the Vulva

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.

Three cases of Dowling Degos disease in two families.

Dowling Degos disease is a rare condition inherited as autosomal dominant trait characterized by numerous, asymptomatic, symmetrical, progressive, small, round-pigmented macules over axillae and groins, face, neck, arms and trunk, scattered comedo-like lesions (dark dot follicles) and pitted acneiform scars. Histopathology is diagnostic. We are hereby reporting three cases of Dowling Degos disease belonging to two families. Our first and second case belonged to the same family, whereas our third case belonged to different family. In our series, all the patients had onset after puberty. All three cases had reticulate pigmentation over face and/or flexures, black comedones and follicular pits. On histopathological examination of the skin biopsy taken from the lesion over the back, all these patients showed classical histopathological features of Dowling Degos disease. We feel that one should investigate the patient presenting with reticulate pigmentation over the face and flexures with blackish comedone-like lesions, because histopathological features of this condition are unmistakable.

A Case of Reticulate Pigmented Anomaly of the Flexures (Dowling-Degos Disease) / 대한피부과학회지

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.

A Case of Idiopathic Eruptive Macular Pigmentation Limited to Flexural Areas

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.

A Case of Reticulate Pigmented Anomaly of the Flexures (Dowling-Degos Disease) / 대한피부과학회지

Dowling-Degos disease is a rare autosomal dominant genodermatosis with a genetically determined disturbance of epidermal proliferation. The clinical symptoms of Dowling-Degos disease are characterized by the acquired reticulate pigmented anomaly of the flexures. We report a case of Dowling-Degos disease in a 27-year-old female, who presented with numerous small, hyperpigmented macules in reticular pattern, localized to the axillae, inframammary and inguinal areas, popliteal fossa, neck, and face.

A Case of Dowling-Degos Disease / 대한피부과학회지

Dowling-Degos disease, or reticular pigmented anomaly of the flexures, is a rare genodermatosis characterized by an acquired reticular macular hyperpigmentation that initially affects the axillae and groin and later involves intergluteal and inframammary folds, the neck, trunk, and arms. We report a case of Dowling-Degos disease occurring in a 40-year-old woman who has typical hyperpigmentation on flexural areas without any family history and has vesicles on the lip and oral mucosae.

A case of reticulate acropigmentation of Kitamura with hyperpigmented macular lesions on the scrotum / 대한피부과학회지

An 18-year-old male patient presented with brownish, sliglitly atrophic, reticulated macular lesions on the dorsal parts of hands and feet sinc childhood, which were characteristic manifestation of ret.iculate acropigmentation of Kitariura. At about thirteen years old age, he noted multiple deep brownish, freckle-like macules on the scrotum. Histopatholigic findings of a scrotal lesion were compatible with those of Dowling-Degos disease, such as epidermal acanthosis, elorga ion of rete ridges and hyperpigmentation of the prickle and basal cell layer.

A Case of Reticulated Pigmented Anomalies of the Flexures / 대한피부과학회지

Reticulated pigrnented anomalies of the flexures is a pigmentary disorder bearing genetic back ground, also known as Dowling Degos disease or dark dot disease. It is characterized reticulated brownish black macules on the flexural areas with the histological features of filiform pigmented epidermal downward proliferation and the presence of intraepidermal keratin containing cysts. We report 34-year-old housewife who showed brawnish black reticulated macules on her axillae, anterior neck and genitocural folds. Pigmented comedones were also found at the marginal areas of the axillae. Biopsy specimen revealed the presence of intraepidermal keratin containing cysts and basilar hyperpigmentation.