Dyschromatosis universalis hereditaria: A case report
Published Web Locationhttps://doi.org/10.5070/D366r7h4fd
Dyschromatosis universalis hereditaria: A case reportIndira Gandhi Medical College & Research Institute, Puducherry, India
Carounanidy Udayashankar MD, Amiya Kumar Nath MD
Dermatology Online Journal 17 (2): 2
Dyschromatosis universalis hereditaria (DUH) is usually an autosomal dominantly inherited disorder characterized by the presence of hypopigmented as well as hyperpigmented macules. We report an Indian patient with DUH with widespread involvement of skin including the face, oral mucous membranes (including tongue), and palms and soles. Our patient also exhibited nail changes, involvement of scalp hair, and keratosis pilaris.
Dyschromatosis universalis hereditaria (DUH) is a subtype of reticulate pigmentary dermatoses (RPD)  with autosomal dominant (rarely recessive) inheritance . It was initially reported from Japan and subsequently from several other countries. It is characterized by the presence of both hyperpigmented and hypopigmented, small, irregular macules, uniformly distributed over the entire body . Most cases present within the first few years of life. Various systemic associations including small stature and high-tone deafness have been described . Involvement of palms, soles, nails, oral mucosa, hair, and face are unusual. We report a case of DUH with widespread involvement of skin including the face, oral mucous membranes, including the tongue. Our patient also showed pigmentation of palms and soles, nail changes, involvement of scalp hair, and keratosis pilaris.
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A 16-year-old boy, born to healthy, non-consanguineous parents, presented with asymptomatic pigmented lesions all over the body since 10 years of age. The initial location of the pigmented lesions was on the neck, followed by sequential involvement of both the axillae, hands, and feet, including palms and soles. Progressively, the rest of the body became involved within a span of 5 years. Hypopigmented macules appeared within the hyperpigmented skin during the course of his disease. He also had progressive hyperpigmentation of the nails since 12 years of age. There was no history of any preceding dermatoses, drug intake, or exposure to chemicals or tars. He did not exhibit heat intolerance or any systemic illness. Developmental history was normal and no one in the family had similar complaints.
Cutaneous examination demonstrated diffuse hyperpigmentation with 1-2 mm sized hypopigmented macules within the hyperpigmentation (giving a mottled appearance) distributed symmetrically over the face, neck, trunk, and dorsa of hands and feet (Figures 1, 2, and 3). The mottled appearance was most prominent over the neck, axillae, wrists, hands, and feet. Palms and soles showed diffuse hyperpigmentation as well as spotty depigmented macules (Figure 4). Dermatoglyphics were normally disposed. Keratotic follicular papules were seen on the posterolateral aspects of the arms and anterolateral aspects of the thighs, suggestive of keratosis pilaris (Figure 5). Diffuse thinning of hair (nonscarring alopecia) was seen over the scalp (frontal, parietal, and vertex) (Figure 6). Hyperpigmentation was seen over the tongue, buccal, and palatal mucosae (Figure 7). Teeth were normal. Hyperpigmentation and mild thinning of all fingernails and dystrophy of all toenails were seen (Figure 4). Hyperpigmentation of penis and scrotum was also present. Systemic examination was normal.
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Hemogram, serum biochemistry, electrolytes, liver function tests, urine and stool examination, and serum cortisol (8 AM) were within normal limits. In addition, chest X-ray, ultrasound abdomen, and echo heart did not reveal any abnormalities.
Histopathology of a skin biopsy specimen showed mild hyperkeratosis. The basal layer showed pigmentation with some coarse melanocyte granules, predominantly in the lower 2-3 layers of the epidermis. There was prominent melanin incontinence with melanophages in the dermis (Figure 8). Sparse lymphohistiocytic infiltrates were seen in the perivascular areas. A diagnosis of dyschomatosis universalis hereditaria was made based on the above findings. The patient’s parents were counseled regarding the disease’s unremitting, but benign nature.
Reticulate pigmentary dermatoses (RPD) encompass a rare heterogenous group of disorders, characterized by hyperpigmented macules coalescing in a reticular pattern, interspersed with hypopigmented macules . Reticulate pigmentary dermatoses are divided into two broad categories: acral RPD and generalized RPD. The various acral RPD include reticulate acro-pigmentation of Kitamura, acro-pigmentation of Dohi, acral melanosis heterochromia extremitarium, and dyschromia symmetrica hereditaria (DSH). The differential diagnoses of generalized RPD are DUH, dermatopathia pigmentosa reticularis (DPR), Naegeli-Franceschetti-Jadassohn syndrome, and dyskeratosis congenita (DKC) (Table 1).
Dyschromatosis universalis hereditaria is a rare disease with autosomal dominant  and sometimes recessive  inheritance. It was first described in 1929 by Toyamo in Japan and then in Germany by Ichikawa and Hiraga in 1933 . It is characterized by the presence of both hyperpigmented and hypopigmented, small, irregular macules uniformly distributed over the entire body . The pigmented macules vary in size and depth of color . The macules of DUH are usually smaller (1-5 mm), but larger macules measuring up to 15 cm have been reported . The trunk and the extremities are the dominant sites . The face is rarely involved and the palms, soles, and mucous membranes tend to be spared . However, there are isolated reports of involvement of the palms, soles [3, 6], and oral mucosae . The nails may be involved . Most of the patients present within the first few years of life (up to 80% present before 6 years of age) . Later onset of the disease has been reported even in adulthood or in the 6th decade of life . Generally DUH does not progress or worsen with age, once well established .
The pathogenesis of DUH has been postulated to be related to interference with the neural-melanocytic interaction in early embryonic life in genetically susceptible individuals . A defect in melanosome production and distribution in the epidermal melanin units with no significant alteration in the number of the melanocytes has also been suggested . The gene responsible for DUH has been mapped to 6q24.2-q25.2 (OMIM 127500). Because the exact biochemical basis of the gene defect is unknown, the diagnosis generally relies on the external phenotype .
Dyschromatosis universalis hereditaria has been reported in association with Dowling-Degos disease , X-linked ocular albinism , tuberous sclerosis , and short stature with high tone deafness . Light brown discoloration of the hair with normal palms and soles, mucus membranes, teeth, and nails were reported in five members of an Arabic family . Many other associated conditions have been reported, such as ocular abnormalities, photosensitivity, learning difficulties, mental retardation, epilepsy, insulin-dependent diabetes mellitus, and erythrocyte, platelet and tryptophan metabolism anormalities . An atypical form of DUH with only localized involvement has been reported .
Whereas well-defined reticulate hyperpigmented and hypopigmented macules have been described in DUH, our patient had diffuse hyperpigmentation with well-defined hypopigmented macules within the hyperpigmented regions. This may be explained by the phenomenon of pleiotropism. Our patient also had keratosis pilaris, an association hitherto unreported. Our patient did not have any affected family member, similar to another earlier report . This particular case is similar to an earlier report from India  of two cases of DUH in which hair, nails, and mucosae were affected. However, this case stands in contrast to another report from India of DUH in which hair, nails, teeth, and mucosae were found to be normal .
References1. Sethuraman G, Srinivas CR, D'Souza M, Thappa DM, Smiles L. Dyschromatosis universalis hereditaria. Clin Exp Dermatol. 2002 Sep;27(6):477-9. [PubMed]
2. Wang G, Li CY, Gao TW, Liu YF. Dyschromatosis universalis hereditaria: two cases in a Chinese family. Clin Exp Dermatol. 2005 Sep;30(5):494-6. [PubMed]
3. Binitha MP, Thomas D, Asha LK. Tuberous sclerosis complex associated with dyschromatosis universalis hereditaria. Indian J Dermatol Venereol Leprol. 2006 Jul-Aug;72(4):300-2. [PubMed]
4. Rycroft RJ, Calnan CD, Wells RS. Universal dyschromatosis, small stature and high-tone deafness. Clin Exp Dermatol. 1977 Mar;2(1):45-8. [PubMed]
5. Bukhari IA, El-Harith EA, Stuhrmann M. Dyschromatosis universalis hereditaria as an autosomal recessive disease in five members of one family. J Eur Acad Dermatol Venereol. 2006 May;20(5):628-9. [PubMed]
6. Al Hawsawi K, Al Aboud K, Ramesh V, Al Aboud D. Dyschromatosis universalis hereditaria: report of a case and review of the literature. Pediatr Dermatol. 2002 Nov-Dec;19(6):523-6. [PubMed]
7. Sethuraman G, Thappa DM, Vijaikumar, Kumar J, Srinivasan S. Dyschromatosis universalis hereditaria: a unique disorder. Pediatr Dermatol. 2000 Jan-Feb;17(1):70-2. [PubMed]
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