dyschromatosis is a rare genodermatosis which is characterized by hyper and hypo pigmented macules of variable shape and size .
case one was a 30-year - old male patient who presented with asymptomatic multiple hypopigmented , and hyperpigmented skin lesions all over the body [ figure 1a and b ] since the age of 10 years . the initial lesions started in the chest and then spread to the entire body in 2 years .
there was no history of photosensitivity or handling of any chemical or any history of drug intake .
skin biopsy from the hyperpigmented macules showed the increased melanin pigmentation [ figure 2a ] , and the hypopigmented macules showed a marked decrease in the epidermal basal melanin [ figure 2b ] .
based on these findings , a diagnosis of dyschromatosis universalis hereditaria ( duh ) was made .
( a and b ) case one with multiple hypopigmented and hyperpigmented macules all over the body photomicrograph depicting marked increase in the epidermal basal melanin from the hyperpigmented macules ( a ) and decrease in the epidermal basal melanin from the hypopigmented macules ( b ) of all the five cases ( h and e , 400 ) case two was a 22-year - old male presenting to our outpatient department with asymptomatic multiple hypo and hyperpigmented macules all over the body [ figure 3 ] since 12 years .
case two with multiple hypopigmented and hyperpigmented macules all over the body case three was a 14-year - old boy who presented with similar lesions all over the body [ figure 4a and b ] since the age of 2 years .
he also had multiple verucca vulgaris over the left arm and dorsum of hands [ figure 4c ] .
case three with similar reticulate pigmentation all over the body ( a and b ) ; broad nasal bridge , long philtrum ( a ) with verucca vulgaris on the dorsum of right hand ( c ) depicts case three and case four with palms showing similar mottled pigmentation case four was the 9-year - old sibling of the 14-year - old boy who revealed similar lesions all over the body [ figure 6 ] since 9 months of age .
he had recurrent pyodermas [ figure 6a ] since birth . on examination , he had molluscum contagiosum lesions [ figure 6b ] on the face . both the siblings also had a broad nasal bridge , long philtrum , and high arched palate . the possibility of primary immunodeficiency was kept and baseline immunodeficiency workup was done .
his serum immunoglobulin assay was normal and human immunodeficiency virus one and two tests ( elisa ) were negative .
both the brothers had hypopigmented , and hyper pigmented macules of varying sizes all over the body .
case four with similar reticulate pigmentation all over the body , abscess over the forehead , molluscum contagiosum ; broad nasal bridge , long philtrum based on these findings , a diagnosis of duh was made in all the four cases .
the other differential diagnosis in all these four cases included xeroderma pigmentosum , dyschromatosis symmetrica hereditaria , dyschromic amyloidosis , and disorders due to chemical exposure such as diphenylcyclopropenone , and monobenzyl ether of hydroquinone .
absence of photosensitivity , atrophy , telangiectasia , eye involvement and benign nature of the condition makes xeroderma pigmentosum unlikely .
these lesions were differentiated from dsh in which the lesions occur in a more acral distribution .
the disorder was also differentiated from dyschromic amyloidosis by the absence of predominant lesions in the sun exposed areas and absence of amyloid deposits in the papillary dermis .
case five was a 21-year - old male who presented with asymptomatic multiple hypo and hyperpigmented skin lesions over the extremities [ figure 7 ] since the age of 1-year .
biopsy from the hypopigmented macules showed decreased melanin pigmentation whereas biopsy from the hyperpigmented macules showed increased focal melanin in the basal layer .
other possibilities such as duh , and reticulate acropigmentation of kitamura were included in the differentials .
duh was ruled out as it is characterized by more extensive lesions including the non acral / unexposed areas of the body .
further , the disease is differentiated from reticulate acropigmentation of kitamura by the absence of atrophic macules , palmar pits or breaks in the epidermal ridge pattern .
case five with similar lesions over the extremities the features of all these five cases have been summarized in table 1 .
reticulate pigmentary dermatoses ( rpd ) comprise a rare group of disorders , characterized by hyperpigmented and hypopigmented macules coalescing to form a reticular pattern .
the various acral rpd includes reticulate acropigmentation of kitamura , acropigmentation of dohi , acromelanosis heterochromia extremitarium , and dyschromatosis symmetrica hereditaria ( dsh ) .
the differential diagnoses of generalized rpd are duh , dermatopathia pigmentoreticularis , naegeli - franceschetti - jadassohn syndrome , and dyskeratosis congenita ( dkc ) .
dyschromatosis is a spectrum of disease which includes duh , dyschromatosis symmetrica hereditaria ( dsh ) or acropigmentation of dohi and a segmental form called unilateral dermatomal pigmentary dermatosis .
duh , a rare autosomal dominant genodermatosis was first described by ichikawa and hiraga in 1933 .
duh is characterized by the presence of both hyperpigmented and hypopigmented , small , irregular macules distributed symmetrically all over the body .
these cases usually do not progress or worsen as age advances , once well established .
theses macules are usually smaller ( 15 mm ) , but larger macules measuring up to 15 cm have been reported . the trunk and the extremities are commonly involved .
the face is generally not involved , and there is sparing of the palms , soles , and mucous membranes .
various systemic associations including small stature and high - tone deafness , dowling - degos disease , x - linked ocular albinism , tuberous sclerosis have been described .
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 abnormalities .
duh is thought to occur secondary to the interference with the neural - melanocytic interaction in early embryonic life in those who are genetically susceptible .
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 . here
one case was associated with mental and growth retardation , recurrent respiratory tract infection , verucca vulgaris ; and his younger brother had recurrent pyoderma with molluscum contagiosum .
both the brothers had characteristic facies of high arched palate , broad nasal root , and long philtrum .
we also report one case of dyschromatosis symmetrica hereditaria in a 21-year - old male patient presenting with similar macules over the extremities .
patients with dyschromatosis symmetrica hereditaria ( reticulate acropigmentation of dohi ) present with hyperpigmented and hypopigmented macules on the face and the dorsal aspects of the extremities .
skin lesions remain localized on extremities in nearly half of the patients and involve face and extremities in the remaining half .
most cases of dsh are inherited as autosomal dominant , although an autosomal recessive variant of dhs has been reported .
later , novel mutations in the adra1 were reported in chinese families confirming that this gene is responsible for dsh in the different ethnic group .
more recently , suzuki et al . reported 16 novel mutations in the adra1 without identifying such mutations in patients with duh .
in a recent ultra - structural skin investigation , nuber et al . indicated that duh is a disorder of melanosome synthesis rate or melanocyte activity and not a disorder of melanocyte number .
dyschromatosis is a benign condition which is usually not associated with systemic involvement which has to be differentiated from conditions like xeroderma pigmentosum , dkc .
we report these cases because of their rare occurrence and characteristic facies of high arched palate , broad nasal root , and long philtrum ; recurrent respiratory tract infections , verucca vulgaris , molluscum contagiosum , and pyodermas as an association of duh has not been reported to the best of our knowledge .
duh and dsh can present without a family history of similar complaints which has been rarely reportedduh can be associated with characteristic facies of high arched palate , broad nasal root and long philtrum , recurrent respiratory tract infections , verucca vulgaris , molluscum contagiosum , and pyodermas . 
 
duh and dsh can present without a family history of similar complaints which has been rarely reported duh can be associated with characteristic facies of high arched palate , broad nasal root and long philtrum , recurrent respiratory tract infections , verucca vulgaris , molluscum contagiosum , and pyodermas .
duh and dsh can present without a family history of similar complaints which has been rarely reportedduh can be associated with characteristic facies of high arched palate , broad nasal root and long philtrum , recurrent respiratory tract infections , verucca vulgaris , molluscum contagiosum , and pyodermas . 
 
duh and dsh can present without a family history of similar complaints which has been rarely reported duh can be associated with characteristic facies of high arched palate , broad nasal root and long philtrum , recurrent respiratory tract infections , verucca vulgaris , molluscum contagiosum , and pyodermas .
duh and dsh can present without a family history of similar complaints which has been rarely reportedduh can be associated with characteristic facies of high arched palate , broad nasal root and long philtrum , recurrent respiratory tract infections , verucca vulgaris , molluscum contagiosum , and pyodermas . 
 
duh and dsh can present without a family history of similar complaints which has been rarely reported duh can be associated with characteristic facies of high arched palate , broad nasal root and long philtrum , recurrent respiratory tract infections , verucca vulgaris , molluscum contagiosum , and pyodermas .
 dyschromatosis is a pigmentary genodermatosis which presents with hyper and hypopigmented skin lesions giving a mottled appearance . 
 it is a rare entity in india reported mainly in the east asian population . 
 classically , two forms have been described ; dyschromatosis universalis hereditaria ( duh ) and dyschromatosis symmetrica hereditaria . here 
 we report four cases of duh and one case of dyschromatosis symmetrica hereditaria from india . 