Hypopigmented Macules Research Articles

Epidermodysplasia verruciformis as a manifestation of ARTEMIS deficiency in a young adult

Abstract This study is the first to report epidermodysplasia verruciformis (EV) associated with ARTEMIS deficiency in a young adult. This broadens the clinical scope of ARTEMIS deficiency, and provides a new genetic etiology for susceptibility to EV.

Complete regression of primary cutaneous malignant melanoma associated with distant lymph node metastasis: a teaching case mimicking blue nevus.

BackgroundMalignant melanoma (MM) tends to be spontaneously regressed, however, complete regression of primary cutaneous MM is an extremely rare phenomenon. Our aim is to be aware that pathologists and/or dermatologists can readily misinterpret it as the other benign or malignant lesions.Case presentationA gradually growing and verrucous hypopigmented macule had been noticed in the right sole of a 65-year-old Japanese male since 2 years before, and it turned to be a solitary bluish to black patch with surrounding depigmentation and was recently decreased in size. In parallel, the patient had a rapidly growing black-pigmented mass lesion at the right inguen. The cutaneous specimen from the sole showed an aggregation of many melanophages predominantly in the middle to deep layer of dermis, associated with surrounding fibrosis, reactive vascular proliferation and CD8-positive T-lymphocytic infiltrate, covered by attenuated epidermis with absence of rete ridge. However, no remnant MM cells were completely seen in the step-serial sections. We first interpreted it as blue nevus. By contrast, the inguinal mass revealed a diffuse proliferation of highly atypical mono- to multi-nucleated large cells having abundant eosinophilic cytoplasm in the enlarged lymph node tissue. Immunohistochemical findings demonstrated that these atypical cells were specifically positive for HMB45 and Melan A. Therefore, we finally made a diagnosis of complete regression of primary cutaneous MM associated with distant lymph node metastasis of MM.ConclusionCareful, not only general/cutaneous but histopathological, examinations should be necessary and adjunctive aids for reaching the correct diagnosis of complete regression of cutaneous MM.

Persistent hypopigmented macules and flat-topped papules

From the Division of Dermatology and Department of Pathology, University of Kansas Medical Center, Kansas City. Funding sources: None. Conflicts of interest: None declared. Correspondence to: Brea Prindaville, MD, Division of Dermatology, University of Kansas Medical Center, 3901 Rainbow Blvd, Kansas City, KS 66160. E-mail: brea.prindaville@alum.dartmouth.org. J Am Acad Dermatol 2016;74:e89-90. 0190-9622/$36.00 a 2015 by the American Academy of Dermatology, Inc. http://dx.doi.org/10.1016/j.jaad.2015.10.018

A novel heterozygous missense mutation in the SASH1 gene is associated with dyschromatosis universalis hereditaria in a pedigree

Objective To investigate clinical features and molecular genetic basis of dyschromatosis universalis hereditaria (DUH) in a pedigree. Methods A detailed genetic survey and a physical examination were performed for available members in a pedigree with DUH. In addition, reflectance confocal microscopy and histopathology were carried out to observe skin lesions of the proband. Blood samples were collected from 8 family members (including 5 patients with DUH and 3 unaffected members) and 200 unrelated healthy human controls. The FlexiGene DNA kit was used to extract genomic DNA from these blood samples, and PCR was performed to amplify all coding exons and their flanking sequences of SASH1 and ABCB6 genes followed by direct DNA sequencing. Results DUH was inherited in an autosomal dominant manner in this pedigree, and occurred within 1 year after birth in 9 patients. Lesions initially appeared on the face, then gradually spread to the whole body. Among 8 surviving patients, 7 presented with irregularly shaped light brown to puce macules complicated by uniform hypopigmentation of the remaining skin, and only the elder sister of the proband showed generalized hyperpigmented macules mingled with hypopigmented macules in a reticular pattern. No abnormality was observed in oral mucosa, nails or teeth, and general status was good in the 8 patients. DNA sequencing revealed a novel heterozygous missense mutation (c.1761C > G, p.Ser587Arg) in exon 15 of the SASH1 gene in the 5 available patients, but not in the 3 unaffected individuals or 200 healthy controls. No mutation was found in the ABCB6 gene in any of the 8 family members. Conclusions Heterogeneity exists in clinical features and molecular genetic basis of DUH. The heterozygous missense mutation p.S587R in the SASH1 gene might be responsible for DUH in this family. Key words: Autosomal-dominant; Heterozygote; Mutation; Genetics; Han nationality; Genes, SASH1; Dyschromatosis universalis hereditaria

Crazy in Love.

Every February brings with it St Valentine's Day, and while expressions of loveaboundduring thismonth, onanygivenday throughout theyear there are ample romantic descriptions to be found in dermatology. Drawing on classical mythology, the hypopigmented macules of syphilis are known as the necklace of Venus, and the vermillion border of the upper lip is referred to as Cupid's bow. Infectiousmononucleosis is knownas “kissingdisease,” “kissing” lesionshavebeendescribed inZoonbalanitis andelectrical burns, and the ideal apposition ofwound edges has been described as that of a “social kiss.” Ecchymoses on the neck are known as “love bites,” and, somewhat less desirably, those with excess abdominal adiposity are said to have “love handles.” Part of the tradition of Valentine's Day is the exchange of gifts, and plentyof inspirationcanbedrawn fromthedermatological realm.While the rose is perhaps themost popular gift, it is also a popular descriptor of cutaneous lesions, suchas “dewdropsona rosepetal” for thevesicles of varicella, roseola infantum, and the “rose spots” of Salmonella typhi infection. The rosette is a widely used dermatology descriptor; clinically as in linear IgA disease, dermoscopically as in keratinizing tumors and histologically as in cyclindromas. Chocolates are always a favorite, and chocolate agar is also the desiredmediumforgrowthofMycobacteriumchelonae. Champagne is liberally consumed on Valentine’s Day, and once the bottle is overturned, it resembles the legofapatientwithadvanced lipodermatosclerosis.Oysters and caviarmay feature on the romantic dinnermenu, conjuring images of rupioid psoriatic plaques and “caviar tongues” (sublingual varicosities). For dessert, strawberries, as in the “strawberry tongue” of Kawasaki disease, are often coupled with cream, the ubiquitous medium for delivery of topical medicaments. Followed by port of course, as in port-wine stains (best referred to as capillary malformations). The luckiest among us will receive jewelry, be it silver, as in the scale of psoriasis, or gold, as in lichen aureus or Staphylococcus aureus infection (with special mention of the Panton-Valentine leucocidin strain). Pearls for some, hopefully rarer types than the common “pearly” surface of nodular basal cell carcinomas, and diamonds for others, such as the rhomboid structures seen dermoscopically in lentigo maligna. While skin remains the loveof all dermatologists, theuniversal symbol of St Valentine's Day is of course the heart, and a wide range of cutaneous abnormalities with heart-shaped morphologic characteristics have been reported. So this February, let us all remember that dermatology ismore than skin deep and that caring for patients with cutaneous disease remains at the heart of dermatology.

Differential Diagnosis of Two Chinese Families with Dyschromatoses by Targeted Gene Sequencing.

Background:The dyschromatoses are a group of disorders characterized by simultaneous hyperpigmented macules together with hypopigmented macules. Dyschromatosis universalis hereditaria (DUH) and dyschromatosis symmetrica hereditaria are two major types. While clinical and histological presentations are similar in these two diseases, genetic diagnosis is critical in the differential diagnosis of these entities.Methods:Three patients initially diagnosed with DUH were included. The gene test was carried out by targeted gene sequencing. All mutations detected on ADAR1 and ABCB6 genes were analyzed according to the frequency in control database, the mutation types, and the published evidence to determine the pathogenicity.Results:Family pedigree and clinical presentations were reported in 3 patients from two Chinese families. All patients have prominent cutaneous dyschromatoses involving the whole body without systemic complications. Different pathogenic genes in these patients with similar phenotype were identified: One novel mutation on ADAR1 (c. 1325C>G) and one recurrent mutation in ABCB6 (c. 1270T>C), which successfully distinguished two diseases with the similar phenotype.Conclusion:Targeted gene sequencing is an effective tool for genetic diagnosis in pigmentary skin diseases.

Extrafacial melasma over forearms.

Sir, Melasma is a common hypermelanoses affecting the female gender. The etiology of melasma has not been clearly identified. Factors associated with melasma include exposure to ultraviolet light, pregnancy, oral contraceptives, hormone replacement therapy, thyroid autoimmunity, cosmetic ingredients, and phototoxic drugs.[1] The commonest site affected by melasma is the face and has been distinguished into three clinical patterns, namely, centrofacial, malar, and mandibular. Extrafacial melasma is a rare entity and has been very rarely reported in the literature. Extrafacial melasma should be distinguished from acquired brachial cutaneous dyschromatosis (ABCD).[2] A 55-year-old woman presented with brownish pigmentation of her both forearms for past six years. She reported that initially few brown hyperpigmented asymptomatic spots appeared on her right forearm and similar pigmented spots started appearing on the other forearm too. She denied any history of inflammatory dermatoses prior to appearance of her skin problem. The patient was postmenopausal since three years. She reported that the pigmentation became more prominent on sun exposure. She denied the intake of oral contraceptive pills or hormone replacement therapy. There was no history suggestive of thyroid dysfunction. She did not give history of receiving any photosensitizing drugs. Cutaneous examination showed a large, brown irregular patch on her right forearm and a similar developing lesion on her other forearm. The patches comprised of multiple coalescing hyperpigmented macules with irregular borders with intervening areas showing normal skin. She also had malar type of facial melasma [Figure 1]. We made a provisional diagnosis of extrafacial melasma and ABCD. Potassium hydroxide mount from the patches failed to show any fungal elements, which ruled out pityriasis versicolor. Wood's lamp examination showed accentuation of pigmentation suggestive of epidermal pigmentation. Skin biopsy from the lesion showed epidermal thinning and increased melanization of basal layer [Figure 2]. Histology showed minimal epidermal atrophy and mild solar elastosis in the form of elastic fiber degeneration. No evidence of amyloid material was seen on special stains, which ruled out frictional amyloid deposition. On a review of the literature, we were able to rule out acquired brachial cutaneous dyschromatosis as there were no hypopigmented atrophic macules. On correlation, we made a diagnosis of extrafacial melasma involving dorsa of both forearms.Figure 1: Patient having malar type of melasma and brownish pigmentation on dorsa of both forearmsFigure 2: H and E stained section of biopsy showing epidermal thinning and increased melanization of basal layers (×20)Extrafacial melasma is an uncommon variant of melasma and has been very rarely reported in the literature. Extrafacial melasma shares similar clinical features as that of facial melasma with brownish hyperpigmented spots with irregular borders. Although facial and extrafacial melasma share some clinical features, they differ in incidence. Melasma occurs predominantly in the age group of 20–40 years with a mean age of 33 years and is rarely observed in menopausal females.[3] Extrafacial melasma is known to affect menopausal women in the fifth decade of life.[4] A close differential for extrafacial melasma affecting forearm is ABCD. ABCD is characterized by dyschromatosis (hyperpigmented and hypopigmented macules) and face is never involved, whereas extrafacial melasma lacks hypopigmented atrophic macules. ABCD has a strong causal association with antihypertensive drugs particularly angiotensin converting enzyme inhibitors.[2] A striking observation in cases of ABCD is poikiloderma of the neck (Civatte), which may be incidental in cases of extrafacial melasma. Histologically, extrafacial melasma resembles facial melasma with increased pigmentation of basal layer and epidermal atrophy. Both the entities show signs of chronic actinic damage on histology Skin biopsy in our patient showed epidermal thinning, which can be a sign of chronic actinic damage. Treatment of extrafacial melasma can be challenging with frequent relapses. Depigmenting drugs, retinoids, and sunscreen are the mainstay of therapy for extrafacial melasma.[56] It is premature to comment whether extrafacial melasma responds to depigmenting therapy akin to typical facial melasma. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest.

Inheritance pattern of hypopigmented macules associated with familial Darier's disease

Hypopigmented macules or guttate leukoderma is a rarely reported association of Darier's disease largely reported in dark colored individuals. So far, the pathogenesis of hypopigmented macules has been only partially explained by varying hypotheses such as post inflammatory phenomenon, an early or subclinical variant of disease, and genetic mosaicism. We describe a case of a 32-year-old male of Indian origin suffering from multigenerational Darier's disease associated with hypopigmented macules over the trunk. Classical warty papules and plaques were present in three generations thus highlighting autosomal dominant inheritance of the disease. The hypopigmented macules were found only in the proband thereby signifying its nonfamilial manner of inheritance.

Efficacy and relapse rates of different treatment modalities for progressive macular hypomelanosis.

Progressive macular hypomelanosis is an acquired disorder characterized by hypopigmented macules mostly on the trunk and upper extremities. Although many treatment modalities have been proposed for this condition with variable success rates, there are few reports comparing their efficacy and relapse rates. To compare the efficacy and relapse rates of different treatment modalities for progressive macular hypomelanosis. Case records of patients diagnosed with progressive macular hypomelanosis and treated in National Skin Centre for a six year period between 2008 and 2014 were reviewed. Patient demographics, distribution of hypopigmented macules, treatment efficacy and relapse rates were noted. A total of 108 patients were seen for progressive macular hypomelanosis over the study period; of these, 40 opted for no treatment but were followed up. Thirty-six were treated with topical antimicrobials and 32 with phototherapy. Of those untreated, 23% recovered spontaneously while 38% in the antimicrobial group and 90% in the phototherapy had remission of their hypopigmentation. After 2 years of follow-up, relapse occurred only in the phototherapy group. The main limitation is the retrospective design whereby diagnosis is dependent on the attending dermatologist. Narrow-band ultraviolet B therapy appears to be the most effective treatment for progressive macular hypomelanosis but also has the highest potential for relapse. Response rates for antimicrobial therapy are lower and slower, but patients who responded did not relapse. A combination of topical/systemic antimicrobials with narrow-band ultraviolet B therapy might be the best option to hasten recovery and minimize relapse.

Siblings with Autism, Mental Retardation, and Convulsions in Tuberous Sclerosis: A Case Report

A 3-year-old female patient born of consanguineous parents presented to the (development and behavioral clinic) in Taif children hospital, Western Saudai Arabia, her mother complained that her daughter had speech delay, no eye to eye contact, and was performing stereotyped behaviors (hand flapping). The girl developed convulsions at the age of 3 months and was on anticonvulsant medication since that age; her convulsions were controlled on anti-epileptic treatment. Family history revealed that the girl had a 6-year-old male sibling who developed convulsions at the age of 4 months and is on antiepileptic medications; the boy suffered also from speech delay, absent social interaction, and repetitive behaviors. On examination the girl had characteristic features of angio-fibromas, hypo-pigmented macules on the trunk and legs, and moreover the boy had similar skin features plus hypo-pigmented tufts of hair. Both cases were diagnosed as Autistic spectrum disorder, tuberous sclerosis, and mental retardation. The family needed genetic counseling, while both cases needed as soon as possible behavioral and educational strategies.

Prevalence of skin disorders in primary and secondary school age children in Canakkale, Turkey: a community-based survey.

IntroductionSkin lesions may be of dermatological importance, affect appearance, and cause problems communicating with peers and may be especially more significant in childhood.AimInformation on the prevalence of pediatric dermatoses in Western Turkey. This study was aimed to define the existing data.Material and methodsA cross-sectional study was conducted in Canakkale, Turkey, in September-December 2013. It involved 1,957 students from five randomly selected primary and secondary schools. Each student was interviewed for age, gender, and family history, and a dermatologic examination was performed by a dermatologist. Data were coded and analyzed.ResultsOf the students, 79.9% revealed at least one dermatosis. The most common disease was benign neoplasms (76%), followed by pigmentary disorders (26.8%), and xerosis (5.8%). In primary schools, the acquired melanocytic nevus, hypopigmented macule, and xerosis; in secondary school the acne was statistically significantly more common. Acne and xerosis was more common in girls, and pityriasis alba was statistically more common in boys. Students who had at least one dermatosis were positively correlated with monthly income.ConclusionsIn Turkish school age children, the prevalence of dermatosis is 79.9%. It may be due to not using preventive means for adequate protection from the sun and other environmental factors. Infectious dermatosis and atopic dermatitis are rare and it may depend on the adequacy of public health work.

Dyschromatosis universalis hereditaria in three siblings

Dyschromatosis universalis hereditaria (DUH) is a rare genodermatosis, which has been reported most often from Japan. The etiology of this disorder is not yet known. DUH is characterized by mixtures of hyperpigmented- and hypopigmented macules all over the body. Skin lesions are usually present in the first years of life. The trunk and extremities are the dominant sites. We report this pigmentary disorder in three siblings, two females and one male. These siblings presented with hypo- and hyperpigmented macules arranged in a reticulate pattern over trunk, dorsal and ventral aspects of legs and arms, and dorsa of both hands and feet. The biopsy findings were also consistent with DUH. Autosomal dominant pattern of inheritance was seen as one of the parents was also affected. There was no systemic involvement.

Dyschromatosis universalis hereditaria: report of six cases from a family

Dyschromatosis universalis hereditaria (DUH) is a rare pigmentary disorder characterized by the presence of mottled hyperpigmented and hypopigmented macules over the trunk, extremities, and face. We have presented a case series comprised of six members of a family who had numerous hyperpigmented and hypopigmented macules distributed all over the body. Histological findings were suggestive of dyschromatosis universalis hereditaria.

Asymptomatic hypopigmented macules on the trunk and limbs of a young male

Asymptomatic hypopigmented macules on the trunk and limbs of a young male

Eruptive Tumors of the Follicular Infundibulum: An Unexpected Diagnosis of Hypopigmented Macules.

BackgroundTumor of the follicular infundibulum (TFI) is considered as a rare benign neoplasm providing two distinctive clinical patterns: the solitary and the eruptive form. The clinical presentations resemble many other dermatologic conditions and require histopathological study to make a definite diagnosis.ObjectiveTo inform physicians of a clinical presentation of TFI.Case ReportWe report on a 50-year-old man who presented with multiple asymptomatic hypopigmented macules resistant to the treatments. The histopathological study was consistent with tumors of the follicular infundibulum.ConclusionHypopigmented macules are one of the more common clinical presentations in dermatological practices. It is important to include TFI in the differential diagnosis when a patient with hypopigmented lesions does not respond to the treatment based on the clinical diagnosis.Electronic supplementary materialThe online version of this article (doi:10.1007/s13555-015-0079-0) contains supplementary material, which is available to authorized users.

Numerous hypopigmented macules in a healthy 32-year-old man

A 32-year-old otherwise healthy man presented with any asymptomatic rash of several years' duration consisting of multiple, diffuse hypopigmented macules on the extremities and buttocks. The physical examination revealed numerous hypopigmented macules with irregular borders measuring 5 to 10 mm in a background of blanching erythema (Fig 1). The macules became more prominent when the patient was exposed to cooler environments and while the extremities were in a dependent position. The macules were less prominent in warmer environments and while the extremities were elevated above the heart (Fig 2).

A Case of Sporadic Dyschromatosis Universalis Hereditaria.

Dear Editor: Dyschromatosis universalis hereditaria (DUH) is a rare genodermatosis characterized by hypo- and hyper-pigmented macules with a reticulated pattern, giving an overall impression of mottling, over the trunk and limbs. It is generally an autosomal dominant disorder but recessive inheritance and patients without a family history of dyschromatosis have been reported, implying a sporadic origin1,2. The etiology of this disorder is unknown. It was recently suggested to be a disorder of melanosome synthesis rate or melanocyte activity and not a disorder of melanocyte number3. A 57-year-old man presented with generalized hypo- and hyper-pigmented macules in mottled pattern on the whole body (Fig. 1). The skin lesions developed on 100th day after his birth. He had moderate pruritus and dry skin with scaling. Potassium hydroxide preparation from the scale produced a negative result. The hair, nails, and oral mucosa as well as mental and developmental status were normal. He had no family history of similar lesions, but his son was diagnosed with X-linked ichthyosis at birth. The patient had a history of diabetes mellitus and hypertension. Systemic examination revealed no abnormalities. Routine blood test results were unremarkable. Skin biopsy specimens taken from both hypo- and hyper-pigmented lesions on his arms revealed markedly reduced and slightly increased melanin in the basal layer in hypoand hyper-pigmented lesions, respectively (Fig. 2). Therefore, we diagnosed the skin lesions as a sporadic form of dyschromatosis universalis. Fig. 1 Generalized reticulated hyper- and hypo-pigmented macules with scales on the whole body. Fig. 2 Skin biopsies were collected from hyper- and hypopigmented lesions on the upper arm (HE ×200). (A) Marked decreased basal pigmentation in a hypopigmented lesion. (B) Slightly increased melanin content in the basal layer of a hyperpigmented ... Dyschromatosis is variation of skin pigmentation, consisting of asymptomatic well-demarcated and irregular brown macules admixed with hypo-pigmented macules of varying size2. There are three major categories of dyschromatosis: DUH, dyschromatosis symmetrica hereditaria (also termed acropigmentation of Dohi), and unilateral dermatomal pigmentary dermatosis. Since its first description by Toyamo in Japan in 1929, subsequent cases of DUH have been reported in Europe, South America, and India. The phenotype seems to be heterogeneous. It is characterized by the presence of both hyper- and hypopigmented small irregular macules uniformly distributed all over the body. The trunk and extremities are the predominantly affected sites, while the face, palms, soles, and mucous membranes are less affected. The skin lesions usually develop in the first few months after birth and do not progress with age. Histopathologically, hyperpigmented lesions exhibit increased melanin content in the basal layer as well as melanin incontinence, while hypopigmented lesions exhibit relatively decreased melanin deposition in the basal layer2. On electron microscopy, hyperchromic macules contain numerous fully melanized melanosomes forming melanosome complexes, but melanosomes are absent from both keratinocytes and melanocytes in achromic macules3. The pathogenesis of DUH remains unknown. However, the DUH locus was recently mapped to chromosome 6q24.2-q25.2 and 12q21-q23, and the ABCB6 gene was identified as the pathogenic gene4. Most cases of DUH have been reported in Japan while only a few have been reported in Korea5. Furthermore, the sporadic form has rarely been reported in the Korean literature. In summary, we report a rare case of the sporadic form of dyschromatosis universalis in a middle-aged man who had no family history.

A late onset case of sporadic dyschromatosis universalis hereditaria

Dyschromatosis universalis hereditaria (DUH) is an autosomal dominant inherited rare genodermatosis wherein patient presents with hypopigmented and hyperpigmented macules of varying sizes in a reticulate pattern. We report a rare case of Dyschromatosis universalis hereditaria in a 23 year old male patient with no affected family members suggesting the possibility of sporadic mutation. Patient born of non consanguineous marriage presented with both hypopigmented macules and hyperpigmented keratotic papules with progressive diffuse hyperpigmentation over the trunk and both the extremities. Other system examination was normal. Histopathological examination showed pigment incontinence with collagenisation of the dermis. A diagnosis of Dyschromatosis universalis hereditaria was made based on history, clinical morphology and histopathology.

Generalised Dowling-Degos disease: A rare variant with hypopigmented macules

Dowling Degos disease is characterised by hyperpigmented macules arranged in a reticulate pattern in the flexures. The rare hypopigmented variant shows characteristic acanthosis with antler like rete ridges but with pigment only at the tips of the rete ridges. We describe here a rare variant with coexistence of characteristic reticulate hyperpigmentation and hypopigmented macules, which has been described as generalised Dowling Degos disease.

Adult onset dyschomatosis universalis.

Dear Editor: Dyschromatosis universalis hereditaria (DUH) is a rare hereditary skin disorder that is characterized by a mixture of small and irregularly sized hyperpigmented and hypopigmented macules of a mottled or reticulated pattern. The usual onset age of DUH is 6 years1. The common pattern of inheritance is generally autosomal dominant; however, rarely, a few cases show a sporadic pattern. Some authors named this form as dyschromatosis universalis (DU) instead of DUH2. We report a case of DU in a 29-year-old female patient with no family history and a late onset of the disease. A 29-year-old Korean woman presented with asymptomatic multiple pinhead to rice sized mottled hypopigmented macules with diffuse hyperpigmented patches on the abdomen and left upper arm (Fig. 1A). The hyperpigmented lesions, which had been noted 1 year previously, started initially on the abdomen and gradually spread to the left upper arm. She has no history of systemic disease or any previous cutaneous disease. She also denied any family history of skin discoloration or similar skin lesions. Fig. 1 (A) Multiple pinhead to rice sized mottled hypopigmented macules with diffuse hyperpigmented patches. (B) A closer view. (C) A biopsy specimen taken from a hyperpigmented lesion on the abdomen showed increased abundant melanin pigments in the epidermis ... A biopsy specimen taken from the hyperpigmented lesion on the abdomen showed increased abundant melanin pigments in the epidermis, with normal number and distribution of melanocytes on hematoxylin-eosin, Fontana Masson, and MART-1 stainning (Fig. 1B). In contrast, the histopathologic finding of a hypopigmented macule suggested a reduced amount of melanin pigments in the lesion area (Fig. 1C). On the basis of these findings, the diagnosis was concluded to be DU. We recommended treatment with Q-switched Nd:YAG laser for the hyperpigmented lesions; however, she refused the therapy. She has been followed without any changes. Rycroft et al.3 reported a case with no family history, but was associated with short stature and high tone deafness. In addition, Shono amd Toda4 reported a case with no family history and associated with photosensitivity and a neurosensory hearing defect. Also, Kim et al.2 reported a case that occurred in the patient at age 20 years, with a sporadic pattern and with no comorbid conditions. Some authors suggest that DU is a more appropriate name for the sporadic cases rather than DUH2. DU should be differentiated from other conditions showing both hyperpigmentation and hypopigmentation, such as generalized Dowling-Degos disease, xeroderma pigmentosum, dyskeratosis congenita and chronic radiodermatitis. DU generally does not involve a family history and present only dyschromatosis without systemic disorder. Various therapeutic trials, such as psoralen and ultraviolet A irradiation, thin split-thickness skin autograft, and Q-switched ruby laser have been tried to treat these lesions; however, there is no definitely effective treatment for both hyperpigmented and hypopigmented lesions. Recently, Kim et al.5 reported that they successfully treated the hyperpigmented lesions of DUH with a Q-switched Nd:YAG laser. Only a few cases of DU have been reported worldwide, and we could find only three cases in the Korean literature (Table 1)2,3,4. Particularly, adult-onset DU like our case is very unusual. Thus, we here report a case of DU occurring in a 29-year-old female patient with no family history. Table 1 Reported cases of dyschromatosis universalis in global literatures (including Korea)