|Year : 2022 | Volume
| Issue : 2 | Page : 196-198
Siblings with dyschromatosis universalis hereditaria a rare case report
Pallavi Kumari1, Sonia P Jain1, Pratiksha Moreshwar Sonkusale1, Abhay Vilas Deshmukh2
1 Department of Dermatology, Venereology and Leprosy, Mahatma Gandhi Institute of Medical Sciences, Wardha, Maharashtra, India
2 Department of Pathology, Mahatma Gandhi Institute of Medical Sciences, Wardha, Maharashtra, India
|Date of Submission||13-Feb-2022|
|Date of Decision||19-Apr-2022|
|Date of Acceptance||22-Apr-2022|
|Date of Web Publication||2-Jan-2023|
Dr. Sonia P Jain
Department of Dermatology, Venereology and Leprosy, Mahatma Gandhi Institute of Medical Sciences, Sevagram, Wardha - 442 102, Maharashtra
Source of Support: None, Conflict of Interest: None
Dyschromatoses are a group of genodermatosis characterized by the presence of both hyperpigmented and hypopigmented macules of variable shapes and sizes. Here, we report siblings presented with asymptomatic progressive mottled pigmentation of reticulate pattern over the trunk and limbs since 6 years of their age without any systemic or other cutaneous illness. They were born to nonconsanguineous parents following an uneventful pregnancy. Their paternal grandfather had a similar appearance. Histological examination was consistent with dyschromatosis universalis hereditaria (DUH). Based on the clinical and histological findings, a diagnosis of DUH was made. We report this case of rare genodermatosis in siblings affected by the same disease.
Keywords: Dyschromatosis universalis hereditaria, genodermatosis, siblings
|How to cite this article:|
Kumari P, Jain SP, Sonkusale PM, Deshmukh AV. Siblings with dyschromatosis universalis hereditaria a rare case report. Mustansiriya Med J 2022;21:196-8
|How to cite this URL:|
Kumari P, Jain SP, Sonkusale PM, Deshmukh AV. Siblings with dyschromatosis universalis hereditaria a rare case report. Mustansiriya Med J [serial online] 2022 [cited 2023 Feb 8];21:196-8. Available from: https://www.mmjonweb.org/text.asp?2022/21/2/196/366643
| Introduction|| |
Dyschromatoses are a group of genodermatosis characterized by the presence of both hyperpigmented and hypopigmented macules of variable shapes and sizes. The spectrum of dyschromatoses includes dyschromatosis universalis hereditaria (DUH), dyschromatosis symmetrica hereditaria (DSH), acropigmentation of Dohi, Dowling–Degos disease, and a segmental form called unilateral dermatomal pigmentary dermatosis.
| Case Report|| |
Two siblings, a 21-year-old female and a 17-year-old male, respectively, presented to the dermatology outpatient department (OPD) with multiple hypopigmented and hyperpigmented macules arranged in a reticulate pattern over the trunk and bilateral upper and lower limbs. The face, palms, and soles were spared. The lesions were noticed 6 years after birth in both of them and increased progressively with age. There was no history of photosensitivity, seizures, or any other systemic illness. They were born of nonconsanguineous marriage by normal vaginal delivery and had normal developmental milestones. There was a history of similar lesions in their paternal grandfather. On cutaneous examination, multiple, well-defined, bilaterally symmetrical both hyperpigmented and hypopigmented macules of variable sizes and shapes were present in a reticulate pattern over the trunk and bilateral upper and lower limbs with sparing of the face, palms, and soles in both the patients [Figure 1] and [Figure 2]. Atrophy or telangiectasias were absent in the affected areas. The hair, teeth, nail, and mucosa were normal. There was no eye; ear, nose, and throat, or any other systemic abnormalities. Microscopically, H- and E-stained sections of the skin biopsy from both siblings showed the presence of an increase in melanin pigment extending to the stratum spinosum. The dermis was unremarkable except for the presence of mild periadnexal lymphocytic infiltrate [Figure 3]. Their paternal grandfather was not able to visit OPD as he was old and debilitated. Based on the findings, a clinical diagnosis of DUH was made, which was confirmed after histopathological results.
|Figure 1: A female with multiple hypopigmented and hyperpigmented macules over the (a) right forearm, (b) back, (c) posterior aspect of bilateral thighs, and (d) bilateral legs|
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|Figure 2: A male with multiple hypopigmented and hyperpigmented macules over the (a) right forearm, (b) back, (c) anterior aspect of bilateral thighs, and (d) bilateral legs|
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|Figure 3: Presence of increased melanin pigment deposition (white arrow) in the epidermis in the (a) male Sibling and (b) female sibling (H and E, ×400)|
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| Discussion|| |
Various types of dyschromatoses based on the distribution of lesions include DUH characterized by both hyper- and hypopigmented macules all over the body which was first reported in 1933 by Ichikawa and Higara. DSH, also known as acropigmentation of Dohi, described in 1929 by Toyama, involves only the acral areas. Both are common in Japan. Few cases of DUH among Europeans, South Americans, and Indians have also been described.
The etiology of this disorder is not known completely. A variable autosomal mode of inheritance of DUH has been described. Their paternal grandfather also had a similar appearance in our case. Some clinicians have suggested that DSH might be a subtype of DUH. The RNA-specific adenosine deaminase gene (ADAR1, DSRAD) responsible for DSH was described first in Japanese families. Mutations in the ADAR1 have been reported in Chinese families that confirmed that this gene is responsible for DSH in different ethnic groups. Sixteen novel mutations in the ADAR1 have been reported by Suzuki et al., with no such mutations in patients with DUH. Furthermore, they did not find the two diseases in the same family, denoting that these two conditions are completely different.
Skin lesions usually present in the 1st years of life in DUH. The trunk and extremities are the dominant sites. Facial lesions were seen in almost 50% of the affected individuals, but the involvement of the palms and soles is rare. Hair and nails abnormalities may also occur. In our case, the face, palms, and soles were spared. The hair, nails, teeth, and mucosae appeared normal.
Nuber et al. indicated that DUH is a disorder of melanosome synthesis rate or melanocyte activity and not a disorder of melanocyte number. Association of DUH has also been found with abnormalities of dermal connective tissue, nerve tissue, and other systemic complications. No such features characterized our patients.
Other diseases characterized by cutaneous dyschromia must be differentiated from DUH. The most important is xeroderma pigmentosum in our country. Both siblings had no signs of XP (no poikiloderma, atrophy, or telangiectasia). Usually, there is no worsening or progression of disease with age. In all reports, there was no spontaneous regression.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form, the patients have given their consent for their images and other clinical information to be reported in the journal. The patients understand that their name and initials will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3]