Dermoscopic findings of poikiloderma in dyskeratosis congenita Fang Wang, MM, Xu-hua Tang, MD, and Mu-kai Chen, MM Guangzhou, China
CLINICAL PRESENTATION A 20-year-old man presented with widespread reticulated hyperpigmentation on the neck, upper aspect of the trunk, and limbs for [12 years’ duration (Fig 1, A). He had tongue leukoplakia, with a cobblestone appearance (Fig 1, B). The nails on all of his digits had longitudinal ridges, splits, onycholysis, and dystrophy (Fig 1, C ). His hematologic parameters were within normal ranges and no clue of hematologic malignancy was disclosed. Dyskeratosis congenita (DC) was diagnosed and confirmed by identification of a mutation in the DKC1 gene in an X-linked Chinese family.
Fig 1. Clinical appearance of dyskeratosis congenita. A, Reticular pigmentation on the neck, upper aspect of the trunk, and limbs. B, Tongue leukoplakia. C, Splitting, onycholysis, and dystrophy of the nails.
DERMOSCOPIC APPEARANCE Dermoscopy revealed a net-like distribution of pigmented skin consisting of pigmented ‘‘lines,’’ hypopigmented ‘‘holes,’’ and diffuse reddish pigmentation in the pigmented lines. The wide pigmented lines consisted of irregular, pepper-like dark brown dots (Fig 2).
From the Department of Dermatology, The First Affiliated Hospital, Sun Yat-Sen University, Guangzhou. Funding sources: None. Conflicts of interest: None declared. Correspondence to: Mu-kai Chen, MM, Department of Dermatology, The First Affiliated Hospital, Sun Yat-Sen University,
No. 58, Zhongshan Er Road, Guangzhou, Guangdong 510080, China. E-mail: [email protected]. J Am Acad Dermatol 2014;71:e195-6. 0190-9622/$36.00 ª 2014 by the American Academy of Dermatology, Inc. http://dx.doi.org/10.1016/j.jaad.2014.02.018
e195
e196 Wang, Tang, and Chen
J AM ACAD DERMATOL
NOVEMBER 2014
Fig 2. The dermoscopic appearance of the pigmented skin revealed a net-like distribution, consisting of pigmented ‘‘lines,’’ hypopigmented ‘‘holes,’’ and diffuse reddish pigmentation in the pigmented lines. The irregularly shaped dark brown dots were unevenly distributed on the pigmented lines.
HISTOLOGIC DIAGNOSIS A biopsy specimen of the pigmented skin was obtained. Histopathology showed epidermal atrophy, liquefaction degeneration of basal cells, and increased numbers of melanophages distributed unevenly in the papillary dermis (Fig 3).
Fig 3. The histologic appearance of the pigmented skin revealed epidermal atrophy, liquefaction degeneration of basal cells, and increased numbers of subdermal melanophages. (Hematoxylineeosin stain; original magnification: 3100.)
KEY MESSAGE DC is an inherited disease that is characterized by the triad of reticulated hyperpigmentation, nail dystrophy, and leukoplakia.1 Reticulated skin pigmentation of DC is actually manifested as poikiloderma.2 To date, there have been few such cases reported with dermoscopy. Dermoscopic features of the skin pigmented changes include a net-like distribution consisting of pigmented lines and hypopigmented holes. Irregularly shaped dark brown dots are diffusely distributed in a pepper-like pattern in the pigmented lines, which correlates with the uneven distribution of increased numbers of subdermal melanophage in pathology. These dermoscopic characteristics can be identified in cases of DC.
REFERENCES 1. Nishio N, Kojima S. Recent progress in dyskeratosis congenita. Int J Hematol 2010;92:419-24. 2. Karunakaran A, Ravindran R, Arshad M, Ram MK, Laxmi MK. Dyskeratosis congenita: a report of two cases. Case Rep Dent 2013; 2013:845125.
CLINICAL PRESENTATION A 20-year-old man presented with widespread reticulated hyperpigmentation on the neck, upper aspect of the trunk, and limbs for [12 years’ duration (Fig 1, A). He had tongue leukoplakia, with a cobblestone appearance (Fig 1, B). The nails on all of his digits had longitudinal ridges, splits, onycholysis, and dystrophy (Fig 1, C ). His hematologic parameters were within normal ranges and no clue of hematologic malignancy was disclosed. Dyskeratosis congenita (DC) was diagnosed and confirmed by identification of a mutation in the DKC1 gene in an X-linked Chinese family.
Fig 1. Clinical appearance of dyskeratosis congenita. A, Reticular pigmentation on the neck, upper aspect of the trunk, and limbs. B, Tongue leukoplakia. C, Splitting, onycholysis, and dystrophy of the nails.
DERMOSCOPIC APPEARANCE Dermoscopy revealed a net-like distribution of pigmented skin consisting of pigmented ‘‘lines,’’ hypopigmented ‘‘holes,’’ and diffuse reddish pigmentation in the pigmented lines. The wide pigmented lines consisted of irregular, pepper-like dark brown dots (Fig 2).
From the Department of Dermatology, The First Affiliated Hospital, Sun Yat-Sen University, Guangzhou. Funding sources: None. Conflicts of interest: None declared. Correspondence to: Mu-kai Chen, MM, Department of Dermatology, The First Affiliated Hospital, Sun Yat-Sen University,
No. 58, Zhongshan Er Road, Guangzhou, Guangdong 510080, China. E-mail: [email protected]. J Am Acad Dermatol 2014;71:e195-6. 0190-9622/$36.00 ª 2014 by the American Academy of Dermatology, Inc. http://dx.doi.org/10.1016/j.jaad.2014.02.018
e195
e196 Wang, Tang, and Chen
J AM ACAD DERMATOL
NOVEMBER 2014
Fig 2. The dermoscopic appearance of the pigmented skin revealed a net-like distribution, consisting of pigmented ‘‘lines,’’ hypopigmented ‘‘holes,’’ and diffuse reddish pigmentation in the pigmented lines. The irregularly shaped dark brown dots were unevenly distributed on the pigmented lines.
HISTOLOGIC DIAGNOSIS A biopsy specimen of the pigmented skin was obtained. Histopathology showed epidermal atrophy, liquefaction degeneration of basal cells, and increased numbers of melanophages distributed unevenly in the papillary dermis (Fig 3).
Fig 3. The histologic appearance of the pigmented skin revealed epidermal atrophy, liquefaction degeneration of basal cells, and increased numbers of subdermal melanophages. (Hematoxylineeosin stain; original magnification: 3100.)
KEY MESSAGE DC is an inherited disease that is characterized by the triad of reticulated hyperpigmentation, nail dystrophy, and leukoplakia.1 Reticulated skin pigmentation of DC is actually manifested as poikiloderma.2 To date, there have been few such cases reported with dermoscopy. Dermoscopic features of the skin pigmented changes include a net-like distribution consisting of pigmented lines and hypopigmented holes. Irregularly shaped dark brown dots are diffusely distributed in a pepper-like pattern in the pigmented lines, which correlates with the uneven distribution of increased numbers of subdermal melanophage in pathology. These dermoscopic characteristics can be identified in cases of DC.
REFERENCES 1. Nishio N, Kojima S. Recent progress in dyskeratosis congenita. Int J Hematol 2010;92:419-24. 2. Karunakaran A, Ravindran R, Arshad M, Ram MK, Laxmi MK. Dyskeratosis congenita: a report of two cases. Case Rep Dent 2013; 2013:845125.
