A case of dyskeratosis congenita with dermoscopic and reflectance confocal microscopic features ¸Sule G€ ung€ or, MD,a Aslı Vefa Erdemir, MD,c Emek Kocat€ urk G€ onc€ u, PhD,a c b € Mehmet Salih G€ urel, PhD, and Server Ozekinci, PhD Istanbul, Turkey Key words: confocal microscopy; dermoscopy; dyskeratosis congenita.
CLINICAL PRESENTATION A 23-year-old man presented to our clinic with nail dystrophy, reticular pigmentation (Fig 1), oral leukoplakia, microcephaly, pectus carinatum, gray hair, and short stature. With these characteristic clinical features he was given a diagnosis of dyskeratosis congenita. Systemic evaluation revealed associated osteoporosis, scoliosis, mental retardation, pulmonary fibrosis, cerebellar hypoplasia, periodontitis, extensive caries of teeth, and short-blunted roots. Acitretin therapy was started to prevent dermatologic malignancy. The patient is still followed up by dermatology and hematology clinics regularly.
Fig 1. Dyskeratosis congenita; reticular pigmentation.
CONFOCAL MICROSCOPY APPEARANCE Reflectance confocal microscopy showed flattened epidermal layer, absence of granular layer, nonrimmed papilla, vacuolar changes at the dermoepidermal junction, and multiple hyperreflective cells corresponding to pigmented macrophages at the papillary part of the dermis (Fig 2). The distance from the surface of the stratum corneum to the dermoepidermal junction was 16 m.
From the Dermatologya and Pathologyb Departments, Okmeydanı Training and Research Hospital; and Dermatology Department, Istanbul Training and Research Hospital.c Funding sources: None. Conflicts of interest: None declared. Reprint requests: S¸ule G€ ung€ or, MD, Dermatology Department, Okmeydanı Training and Research Hospital, Dar€ ullacize St, S¸is¸li, Istanbul, Turkey. E-mail: [email protected].
J Am Acad Dermatol 2015;73:e11-3. 0190-9622/$36.00 ª 2015 by the American Academy of Dermatology, Inc. http://dx.doi.org/10.1016/j.jaad.2015.02.1141
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Fig 2. Dyskeratosis congenita. Reflectance confocal microscopy showed flattened epidermal layer, absence of granular layer, nonrimmed papilla, vacuolar changes at the dermoepidermal junction (black arrows), and multiple hyperreflective cells corresponding to pigmented macrophages at the papillary part of the dermis (red arrows).
DERMOSCOPIC APPEARANCE Dermoscopic examination revealed pigmented lines consisting of brown dots and globules arranged as netlike pattern (Fig 3).
Fig 3. Dyskeratosis congenita. Dermoscopic examination revealed pigmented lines consisting of brown dots and globules arranged as netlike pattern.
HISTOLOGIC APPEARANCE The skin biopsy specimen showed epidermal atrophy, liquefaction degeneration of basal cells, and increased dermal melanophages (Fig 4).
J AM ACAD DERMATOL VOLUME 73, NUMBER 1
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Fig 4. Dyskeratosis congenita. Epidermal atrophy, liquefaction degeneration of basal cells, and increased dermal melanophages in histopathological examination. (Hematoxylin-eosin stain; original magnification: 3200.)
KEY MESSAGE Dyskeratosis congenita is an unusual inherited bone-marrow failure and cancer predisposition syndrome characterized with the clinical triad of reticular skin pigmentation, nail dystrophy, and mucosal leukoplakia. It can be associated with dental, pulmonary, hematologic, gastrointestinal, neurologic, vascular, ophthalmic, and skeletal system involvements.1 In vivo reflectance confocal microscopy is a noninvasive diagnostic method that allows imaging of cells and structures in living skin at high resolution with precision almost similar to histologic analysis.2 We present this case to demonstrate the dermoscopic and reflectance confocal microscopic features of dyskeratosis congenita skin involvement.
REFERENCES 1. Garcia MS, Feldstein JT. The diagnosis and treatment of dyskeratosis congenita: a review. J Blood Med. 2014;5:157-167. 2. Erdemir AVT, Aksu AEK. Reflectance confocal microscopy: morphology of normal skin and the use in melanocytic lesions. Turkderm. 2013;47:136-141.
CLINICAL PRESENTATION A 23-year-old man presented to our clinic with nail dystrophy, reticular pigmentation (Fig 1), oral leukoplakia, microcephaly, pectus carinatum, gray hair, and short stature. With these characteristic clinical features he was given a diagnosis of dyskeratosis congenita. Systemic evaluation revealed associated osteoporosis, scoliosis, mental retardation, pulmonary fibrosis, cerebellar hypoplasia, periodontitis, extensive caries of teeth, and short-blunted roots. Acitretin therapy was started to prevent dermatologic malignancy. The patient is still followed up by dermatology and hematology clinics regularly.
Fig 1. Dyskeratosis congenita; reticular pigmentation.
CONFOCAL MICROSCOPY APPEARANCE Reflectance confocal microscopy showed flattened epidermal layer, absence of granular layer, nonrimmed papilla, vacuolar changes at the dermoepidermal junction, and multiple hyperreflective cells corresponding to pigmented macrophages at the papillary part of the dermis (Fig 2). The distance from the surface of the stratum corneum to the dermoepidermal junction was 16 m.
From the Dermatologya and Pathologyb Departments, Okmeydanı Training and Research Hospital; and Dermatology Department, Istanbul Training and Research Hospital.c Funding sources: None. Conflicts of interest: None declared. Reprint requests: S¸ule G€ ung€ or, MD, Dermatology Department, Okmeydanı Training and Research Hospital, Dar€ ullacize St, S¸is¸li, Istanbul, Turkey. E-mail: [email protected].
J Am Acad Dermatol 2015;73:e11-3. 0190-9622/$36.00 ª 2015 by the American Academy of Dermatology, Inc. http://dx.doi.org/10.1016/j.jaad.2015.02.1141
e11
e12 G€ ung€ or et al
J AM ACAD DERMATOL
JULY 2015
Fig 2. Dyskeratosis congenita. Reflectance confocal microscopy showed flattened epidermal layer, absence of granular layer, nonrimmed papilla, vacuolar changes at the dermoepidermal junction (black arrows), and multiple hyperreflective cells corresponding to pigmented macrophages at the papillary part of the dermis (red arrows).
DERMOSCOPIC APPEARANCE Dermoscopic examination revealed pigmented lines consisting of brown dots and globules arranged as netlike pattern (Fig 3).
Fig 3. Dyskeratosis congenita. Dermoscopic examination revealed pigmented lines consisting of brown dots and globules arranged as netlike pattern.
HISTOLOGIC APPEARANCE The skin biopsy specimen showed epidermal atrophy, liquefaction degeneration of basal cells, and increased dermal melanophages (Fig 4).
J AM ACAD DERMATOL VOLUME 73, NUMBER 1
G€ ung€or et al e13
Fig 4. Dyskeratosis congenita. Epidermal atrophy, liquefaction degeneration of basal cells, and increased dermal melanophages in histopathological examination. (Hematoxylin-eosin stain; original magnification: 3200.)
KEY MESSAGE Dyskeratosis congenita is an unusual inherited bone-marrow failure and cancer predisposition syndrome characterized with the clinical triad of reticular skin pigmentation, nail dystrophy, and mucosal leukoplakia. It can be associated with dental, pulmonary, hematologic, gastrointestinal, neurologic, vascular, ophthalmic, and skeletal system involvements.1 In vivo reflectance confocal microscopy is a noninvasive diagnostic method that allows imaging of cells and structures in living skin at high resolution with precision almost similar to histologic analysis.2 We present this case to demonstrate the dermoscopic and reflectance confocal microscopic features of dyskeratosis congenita skin involvement.
REFERENCES 1. Garcia MS, Feldstein JT. The diagnosis and treatment of dyskeratosis congenita: a review. J Blood Med. 2014;5:157-167. 2. Erdemir AVT, Aksu AEK. Reflectance confocal microscopy: morphology of normal skin and the use in melanocytic lesions. Turkderm. 2013;47:136-141.
