Dyschromatosis Universalis Research Articles

Dyschromatosis universalis hereditaria: A rare case report

Dyschromatosis universalis hereditaria is an autosomal dominant disorder but may be recessive or sporadically inherited disorder, infrequently occurring genodermatosis with peculiar pigmentary changes, consisting of varying sized, intermingled hyperpigmented and hypopigmented macules that give an overall impression of mottling. Herein, we report this extremely rare case of dyschromatosis universalis hereditaria in a young male with a family history of the same disorder in his younger brother.

Dyschromatosis universalis hereditaria: Infrequent genodermatoses in India

Dyschromatosis universalis hereditaria (DUH) is a rare genodermatosis reported initially and mainly in Japan. However, subsequent cases have been reported from other countries. We report a case of DUH in a south Indian woman with a positive family history with cosmetic disfigurement and severe psychological impairment.

Thrombocytopenia in dyschromatosis universalis hereditaria

Dyschromatosis universalis hereditaria (DUH) is an extremely rare genodermatosis, characterised by hyperand hypo-pigmented macules forming a reticulate pattern. We describe a patient with features of DUH. DOI: http://dx.doi.org/10.4038/cmj.v57i3.4705 Ceylon Medical Journal 2012; 57 : 124-125

Hyperkeratosis lenticularis perstans (Flegel’s disease) with unusual clinical presentation. Response to isotretinoin therapy.

Dyschromatosis universalis hereditaria (DUH) is a rare genodermatosis mainly described in asian subjects. Here, we report a case of a caucasian 11-year-old boy with DUH and an unaffected twin brother. Parents were not consanguineous. A review of the main phenotical, clinical and hystological aspects of this rare entity is exhibited. Differential diagnose might be stablished with several pigmentary disorders, so Dermatologist might have this entity in mind to make a correct diagnose, specially in cases with no response to typical treatments.

Dyschromatosis universalis hereditaria: a familial case with ultrastructural skin investigation

Dyschromatosis universalis hereditaria (DUH) is a rare disease that is inherited both in autosomal dominant and autosomal recessive patterns. It is characterized by appearance of pinpoint to pea-sized hypo- and hyper-pigmented macules distributed in a reticulated pattern over the trunk and limbs within the first few years of life. Although the pathogenesis is still not clear, some authors proposed that decreased melanosome synthesis rate may underlie this disorder. We describe a 56-year-old female and her 24-year-old son with generalized symmetrically distributed hypo- and hyper-pigmented macules. After clinical, histological and ultrastructural examination, we proposed defect in melanosome transfer from melanocytes to keratinocytes may underlie the pathogenesis of DUH.

Dyschromatosis universalis hereditaria in an African American male

Dyschromatosis universalis hereditaria (DUH) is a very rare genodermatosis characterized by generalized skin dyspigmentation. It is most common in Japan, but has also been reported in other parts of Asia, Europe, South America, and Africa. We report a case of a 44-year-old man born and raised in North America who presented with total skin discoloration since birth.

Dyschromatosis universalis hereditaria: A rare entity

Dyschromatosis universalis hereditaria is an infrequently occurring genodermatosis with peculiar pigmentary changes, consisting of varying sized, intermingled hyperpigmented and hypopigmented macules that give an overall impression of mottling. We hereby report a case of dyschromatosis universalis hereditaria in a young female with a family history of the disorder.

KITLG Mutations Cause Familial Progressive Hyper- and Hypopigmentation

Familial progressive hyper- and hypopigmentation (FPHH) is thought to be an autosomal dominant disorder with reduced penetrance. Clinical signs consist of progressive diffuse, partly blotchy hyperpigmented lesions, multiple café-au-lait spots, intermingled with scattered hypopigmented-appearing maculae, and lentigines. FPHH is distinct from familial progressive hyperpigmentation (FPH), in which no hypopigmented features are present, and which is phenotypically and histologically closer to Dyschromatosis Universalis Hereditaria 2 (DUH2). It also differs from the Legius syndrome, characterized by familial café-au-lait spots and skin fold freckling, caused by mutations in SPRED1. We performed a genome-wide linkage analysis in seven families with FPHH, and identified linkage on 12q21.12-q22, which overlaps with the DUH2 locus. We investigated whether KITLG in the locus is mutated in FPHH. We discovered three different mutations in four families. A reported FPH substitution was observed in two FPHH families, and two, to our knowledge, previously unreported substitutions, p.Val33Ala and p.Thr34Pro, cosegregated with FPHH in two separate families. All three mutations were located in a conserved β-strand in KITLG, suggesting its important role in the activation of the KITLG receptor c-Kit. In aggregate, mutations in a single gene cause various pigmentation disorders: FPH, FPHH, and likely DUH2. Therefore, KITLG is an important modulator of skin pigmentation.

Dyschromatosis universalis hereditaria: A case report

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

Dyschromatosis universalis hcreditaria is a rare autosomal dominant inherited disease characterized by generalized hyper-and hypo-pigmentation of the skin. Most of the reported cases of this disease are from east Asian. Early studies suggested that dyschromatosis symmetrica hereditaria might be a subtype of this disease. However, recent studies on pathogenic genes have revealed that dyschromatosis symmetrica hereditaria and dyschromatosis univcrsalis hereditaria belong to two distinct disease entities. Key words: Heredity ; Pigmentation disorders ;

Two Taiwanese siblings with dyschromatosis universalis hereditaria

Two Taiwanese siblings presented with clinical and histological findings of dyschromatosis universalis hereditaria, which is an uncommon hereditary skin disease. A 26-year-old Taiwanese man had developed diffuse hyperpigmentation with hypopigmented spots over his whole body from the age of 4 years. His 34-year-old brother had also developed a similar skin pigmentary defect from about the same age. Histological examination of the hyperpigmented lesions found an increase in melanin in the basal layer, pigmentary incontinence, and some melanophages in the upper dermis but no increase in the number of melanocytes. The unique clinical, histological, and genetic features of this condition are outlined.

Dyschromatosis universalis hereditaria in a young Nigerian female

Dyschromatosis universalis hereditaria (DUH) is a clinically heterogeneous disorder that shows generalized mottled pigmentation. It occurs most commonly in Japanese persons, with sporadic reports from South Africa, India, and Iraq. Histopathology reveals a variable degree of pigmentary incontinence. Although the precise etiology of this disorder is not yet known, the clinicopathological findings implicate an inherent abnormality of melanosomes or melanin processing. We describe a case in a young Nigerian girl.

Dyschromatosis universalis hereditaria

Dyschromatosis universalis hereditaria is an infrequently occurring genodermatosis with a peculiar pigmentary change, consisting of varying sized hyperpigmented macules mingled with hypopigmented lesions to give an overall impression of mottling. We hereby report a case of dyschromatosis universialis hereditaria in a child with no family history of the disorder.

Dyschromatosis universalis hereditaria: evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21‐q23

Dyschromatosis universalis hereditaria (DUH) and dyschromatosis symmetrica hereditaria (DSH) are pigmentary dermatoses most commonly seen in Japan. Both disorders usually show autosomal dominant inheritance, although in some cases autosomal recessive inheritance was reported. DSH was mapped to chromosome 1q21.3, and mutations in the gene ADAR (DSRAD) were identified in Japanese, Chinese and Taiwanese families with autosomal dominant DSH. A second locus for dyschromatosis was mapped on chromosome 6q24.2-q25.2 in two Chinese families initially reported to be affected with DSH, but later suggested to have autosomal dominant DUH. The aim of this study was to investigate whether one of these two loci is involved in the development of DUH in a consanguineous Bedouin family from Saudi Arabia with four affected and three unaffected sibs, clearly pointing to autosomal recessive inheritance. After excluding mutations in ADAR and linkage to the candidate regions on chromosomes 1 and 6, we performed an single nucleotide polymorphism-based genome-wide scan for linkage with other loci. Under the assumption of autosomal recessive inheritance, we have identified a new locus for dyschromatosis on chromosome 12q21-q23 in this Arab family with a maximum logarithm of the odds (LOD) score of 3.4, spanning a distance of 18.9 cM. Our study revealed the first locus for autosomal recessive DUH and supports recent evidence that DSH and DUH are genetically distinct disorders.

Dyschromatosis universalis hereditaria: Two cases

Dyschromatosis universalis hereditaria is a rare genodermatosis reported initially and mainly in Japan. However, subsequent cases have been reported from other countries. We describe two Tunisian cases of dyschromatosis universalis hereditaria in a 3-year-old and a 3-month-old girl. They presented to our department with asymptomatic progressive mottled pigmentation over the trunk and limbs, which had been noted since birth and had become more noticeable with age. Palms and soles were also affected in the first case. The two patients did not have any systemic or other cutaneous illness. They were born to healthy, second-degree consanguineous parents (case 1) and non consanguineous parents (case 2), following an uneventful pregnancy. No family members had a similar appearance. Physical examination revealed numerous, generalized, hyperpigmented macules interspersed with spotty de-pigmented macules. Hair, nails, teeth, and mucosae were normal. Systemic examination did not reveal abnormalities. Histological exam revealed basal layer hypermelanosis with pigmentary incontinence in some areas. So based on those findings a clinical diagnosis of DUH was made and the patients were followed up in our department for periodic general evaluation of their skin. After a follow up of 12 months, the first child didn't develop other lesions, but palms and soles were also involved in the second case.

Generalized Dowling-Degos disease

Dowling-Degos disease (DDD) is a rare inherited disease characterized by reticular hyperpigmentation on flexor surfaces. We sought to describe several cases of generalized DDD, a presentation that resemble dyschromatosis universalis hereditaria. The clinical manifestations, histopathologic, and genetic studies of a family with autosomal dominant inheritance were analyzed. The father and his sister had reticular hyperpigmentation on flexor surfaces, whereas the daughter and son had generalized hyperpigmentation with numerous hypopigmented or erythematous macules and papules on the trunk and limbs. Skin biopsy specimens from both types of lesions all had typical features of DDD. Biopsy specimens from axillary skin had features of Galli-Galli disease, an acantholytic form. There were no mutations of the double-stranded RNA-specific adenosine deaminase or keratin 5 genes. Generalizations cannot be drawn from genetic study of only one family. DDD can present with generalized hyperpigmentation and hypopigmented papules.

Spotted and rippled reticulate hypermelanosis: a possible variant of Dowling?Degos disease

Conflicts of interest: none declared. Sir, Pigmentation disorders derive from melanoblast migration, biogenesis of melanosomes, and secretion of melanosomes into keratinocytes.1 Reticulate hyperpigmentary disorders have been classified into dyschromatosis symmetrica hereditaria (DSH) of Toyama (MIM 127400), dyschromatosis universalis hereditaria (DUH) (MIM 127500), Dowling–Degos disease (DDD) (MIM 179850) and reticulate acropigmentation of Kitamura (RAK). We encountered a 3‐year‐old girl showing asymptomatic and asymmetrical, spotted and rippled reticulate hypermelanosis without hypomelanosis. Here, we discuss the similarities to and differences from previously defined disorders. A 3‐year‐old Japanese girl presented with spotted and rippled reticulate hypermelanosis without hypopigmented spots. The pigmentation showed an asymmetrical distribution. The pigmentation gradually developed from the age of 1 year. Rippled reticulate hypermelanosis was observed around the left axilla, and faint hypermelanosis around the right axilla. Spotted and rippled reticulate hypermelanosis was present on the flexures of the extremities, especially on the right thigh (Fig. 1a). Spotted reticulate hypermelanosis was present on the dorsa of the hands and feet (Fig. 1b). The dorsum of the left foot showed more pronounced hypermelanosis (Fig. 1b). V‐neck‐shaped asymmetrical hyperpigmentation was observed. The patient had normal palms and soles, and no other cutaneous abnormalities. Her relatives did not have reticulate hyperpigmentation. Skin biopsies were taken from sun‐protected areas of the upper back: a hyperpigmented lesion on the left side and a normal skin‐coloured lesion on the right side. Histopathology of both biopsy specimens showed the same features. Haematoxylin and eosin staining showed no papillary downgrowth of the epidermis. Fontana–Masson staining indicated asymmetrical distribution of melanin granules and persistence of melanin granules through the epidermis (Fig. 2a). Electron microscopy showed a small number of stage II melanosomes, about 45% of melanosomes being stage III, and the remainder stage IV (Fig. 2b).

Dyschromatosis universalis hereditaria as an autosomal recessive disease in five members of one family

Dyschromatosis universalis hereditaria as an autosomal recessive disease in five members of one family

Tuberous sclerosis complex associated with dyschromatosis universalis hereditaria

Tuberous sclerosis is an autosomal dominant disease due to mutations in two genetic loci, characterized by hamartoma formation in the skin, nervous system, heart, kidney and other organs. Dyschromatosis universalis hereditaria is an autosomal dominant genodermatosis, characterized by small hyperpigmented and hypopigmented macules, uniformly distributed over the entire body. The face is rarely involved and the palms, soles and mucous membranes are usually spared. We report a case of tuberous sclerosis with dyschromatosis universalis hereditaria, with hyperpigmented and hypopigmented macules affecting the palms, soles and oral mucosa. To our knowledge, this is the first reported case of such an association.

Dyschromatosis universalis hereditaria: two cases in a Chinese family

Two cases of dyschromatosis universalis hereditaria (DUH) from a Chinese family are presented. Case 1 was a 62-year-old woman who had a generalized and progressive hyper- and hypopigmentation of the skin from the age of 8 years. Her brother had also developed a similar skin pigmentary defect from about the same age. Histopathological and ultrastructural examination of lesional skin showed increased melanin content in epidermal keratinocytes but no changes in the appearance or number of melanocytes. Although hereditary defects may influence melanogenesis resulting in a pigmentary anomaly, the pathogenesis of DUH remains unclear.