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Generalized dowling-degos disease: case reports.

Wititsuwannakul J, Noppakun N - Ann Dermatol (2013)

Bottom Line: 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.

View Article: PubMed Central - PubMed

Affiliation: Division of Dermatology, Department of Medicine, Faculty of Medicine, Chulalongkorn University and King Chulalongkorn Memorial Hosptial, Thai Red Cross Society, Bangkok, Thailand.

ABSTRACT
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.

No MeSH data available.


Related in: MedlinePlus

Pedigree of family with generalized Dowling-Degos disease (DDD). Proband (P), his first son (case 2), and his second daughter (case 3) had generalized DDD.
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Figure 1: Pedigree of family with generalized Dowling-Degos disease (DDD). Proband (P), his first son (case 2), and his second daughter (case 3) had generalized DDD.

Mentions: 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 scars1-3. The disorder usually appears and/or worsens after puberty. DDD, dyschromatosis symmetrica hereditaria (DSH), dyschromatosis universalis hereditaria (DUH) and reticulate acropigmentation of Kitamura (RAPK) share clinical features with each other; yet, they have different pathology findings4-7. 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 tips8,9. Recently, the loss-of-function in the keratin 5 (KRT5) gene and a gene locus mapping to chromosome 17p13.3 have been described recently in cases of DDD10,11. In this study, we report a family with autosomal dominant inheritance (Fig. 1) of a skin disorder with clinical features of generalized DDD (Fig. 2~4).


Generalized dowling-degos disease: case reports.

Wititsuwannakul J, Noppakun N - Ann Dermatol (2013)

Pedigree of family with generalized Dowling-Degos disease (DDD). Proband (P), his first son (case 2), and his second daughter (case 3) had generalized DDD.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3756204&req=5

Figure 1: Pedigree of family with generalized Dowling-Degos disease (DDD). Proband (P), his first son (case 2), and his second daughter (case 3) had generalized DDD.
Mentions: 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 scars1-3. The disorder usually appears and/or worsens after puberty. DDD, dyschromatosis symmetrica hereditaria (DSH), dyschromatosis universalis hereditaria (DUH) and reticulate acropigmentation of Kitamura (RAPK) share clinical features with each other; yet, they have different pathology findings4-7. 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 tips8,9. Recently, the loss-of-function in the keratin 5 (KRT5) gene and a gene locus mapping to chromosome 17p13.3 have been described recently in cases of DDD10,11. In this study, we report a family with autosomal dominant inheritance (Fig. 1) of a skin disorder with clinical features of generalized DDD (Fig. 2~4).

Bottom Line: 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.

View Article: PubMed Central - PubMed

Affiliation: Division of Dermatology, Department of Medicine, Faculty of Medicine, Chulalongkorn University and King Chulalongkorn Memorial Hosptial, Thai Red Cross Society, Bangkok, Thailand.

ABSTRACT
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.

No MeSH data available.


Related in: MedlinePlus