Niger J Paed 2014; 41 (4): 390 - 392

CASE REPORT

Henshaw EB

Dyschromatosis symmetrica

Ntia HU

Archibong JE

hereditaria: Report of a sporadic

case in a Nigerian child

DOI:http://dx.doi.org/10.4314/njp.v41i4,20

Accepted: 24th July 2014

Abstract

Dyschromatosissym-

with

progressive

symmetric

metricahereditaria (DSH) is one

dyschromic lesions on the dorsa of

Henshaw EB (

)

of a group of reticulate pigment

the hands and feet, with no family

Dermalology unit,

history of similar lesions. The di-

Department of Medical,

disorders of the skin. It is a rare

Faculty of Medicine / Dentistry

autosomal dominantly inherited

agnosis was confirmed by the typi-

University of Calabar, Nigeria.

genodermatosis,

presenting

as

cal histologic finding of basal hy-

mottled admixtures of hypopig-

perpigmentation with normal num-

Ntia HU

mented

and

hyperpigmented

ber of melanocytes and absence of

Department of Paediatric,

macules on the dorsa of the ex-

melanin incontinence from a hy-

tremities.

It

is

predominantly

perpigmented lesion

Archibong JE

found among persons of Oriental

Department of Medicine,

origin. We hereby document the

Keywords: DyschromatosisSym-

University of Calabar Teaching Hospi-

metricaHereditaria, Nigerian,

tal Calabar, Nigeria.

first case of dyschromatosissym-

metricahereditaria in a four year

Sporadic

old Nigerian boy who presented

Introduction

melanotoxic chemicals nor any preceding inflammatory

skin disorder such as pityriasis alba, pityriasisliche-

Dyschromatosissymmetricahereditaria (DSH) (aka.

noideschronica or psoriasisin the affected area prior to

Reticulate acropigmentation of Dohi) is a rare genoder-

the appearance of the pigmentary changes. The lesions

matoses which was first described in Japan and has been

1

were limited to the dorsa of the hands and feet, did not

more widely reported among Asian populations . There

2-4

affect the palms, soles, face, axilla, trunk or mucous

have also been few reports among Caucasians and in

membrane. (Figure 1) There were no similar lesions in

some Middle Eastern countries . It presents with as-

5-7

parents, siblings or other known family members and he

ymptomatic symmetrical reticular admixtures of hyper-

is the product of a non-consanguinous marriage. His

pigmented and hypopigmented macules on the dorsa of

delivery was normal, with attainment of normal devel-

the hands and feet, and sometimes with freckle-like

opmental milestones. There were no other systemic

macules on the face. The condition usually starts in in-

symptoms, no evidence of photosensitivity, and his gen-

fancy or childhood and progressively increases until

eral health was good with a weight of 84.4% of the ex-

adolescence when it stops spreading. Various therapeu-

pected. Examinationof the hands and feet revealed re-

tic agents have been employed in the treatment of this

ticulate hyper and hypopigmented macules extending

condition including topical steroids, calcipotriol and

proximally from the dorsal surfaces of the fingers and

psoralen plus UVA (PUVA), but none has been effec-

toes to the wrists and ankles respectively, the skin tex-

tive. This report aims to acquaint clinicians on the exis-

ture was normal and there were no pits or breaks in the

tence of DSH in Nigeria, thus increasing the list of dif-

linear ridges of the palms. There were no similar lesions

ferential diagnoses of pigmentary disorders in our envi-

on other parts of the body. Systemic examination was

ronment. It will also add to the existing global body of

essentially normal, full blood count and urinalysis

knowledge.

yielded no abnormality and biopsy of a hyperpigmented

macule showed focal reticulated papillomatosis alternat-

Case Report

ing with epidermal atrophy. There was basal hyperpig-

mentation with normal number of melanocytes and ab-

A four year old boy of the Igbo tribe in South-eastern

sence of melanin incontinence. (Figure 2) Based on the

Nigeria was brought by an overtly anxious mother to the

typical clinical presentation and suggestive histologic

paediatric dermatology clinic of the University of Cala-

finding a diagnosis of Dyschromatosissymmetrica-

bar Teaching Hospital (UCTH)with a history of progres-

hereditaria was made. The family was informed about

sively increasing symmetrical mottled hypopigmented

the natural history of DSH and counselled on their ex-

and hyperpigmented lesions on the dorsa of both hands

pectations regarding treatment and resolution, and pa-

and feet which started when he was one year old. There

tient was given a yearly appointment

was no associated pruritus, localized abnormality of

sweating,

neither

was

there

contact

with

any

391

Fig 1: Mottled hyper- and

pits and breaks in dermatoglyphics; Dowling-Degos

hypopigmentation on the dorsa

disease which has a similar clinical presentation with

of the feet

RAK, but lesions are found in the flexures and large

body folds and Galli-Galli disease with a distinctive

histologic finding of suprabasal acantholysis . The typi-

10

cal histopathologic finding in DSH is, increased melanin

pigment in the basal layer and throughout the epidermis

in hyperpigmented lesions, and reduced or absent mela-

nin in hypopigmented lesions, all with normal number

Fig 2: Photomicrograph of

of melanocytes. In addition to the above findings our

biopsied lesion from dorsum

of the hand. (H & EX 10)

patient also had epidermal atrophy which is not a dis-

tinctive feature of DSH, however Peng et al reported a

4

case of DSH, howbeit with focal epidermal atrophy on

histology, mutation analysis confirmed the diagnosis of

DSH. Epidermal atrophy is more commonly found in

acropigmentation of Kitamura (RAK), however, there is

often an increase in the number of basal melanocytes

(which was not observed in our patient’s histology) and

the clinical picture is also different. DSH has been asso-

Discussion

ciated with a number of disease entities, including

dystonia, mental retardation, neurofibromatosis, seizure,

Dyschromatosis symmetrica hereditaria is a rare genetic

autism, urticaria, mood disorder, β thalassemia and poly-

disorder of skin pigmentation, which was initially

dactyly

4,6,11

but none of these associations have been

thought to be a Japanese-specific genodermatoses. It is

consistent. There was no similar or novel association in

often shown to have an autosomal dominant pattern of

our patient. Treatment of DSH has included the use of

inheritance ; however, there have been reports of auto-

4

topical steroids, pimerolimus, calcipotriol and Psoralen

somal recessive and sporadic cases . The latter which is

7

5

plus UVA (PUVA) all of which have not led to resolu-

the mode seen in our index patient, with no known fam-

tion of the condition .

5,7

ily history of the condition. Mutations occur in the RNA

-specific adenosine deaminase gene (ADAR1), and more

than 122 of such mutations in this gene have been re-

ported . It phenotypically presents as pinpoint or pea-

8

Conclusion

sized symmetrical mottled hypo- and hyperpigmented

macules, typically in an acral distribution. There may be

In conclusion, this report has documented the existence

associated freckle-like macules on the face, extension of

of dyschromatosis symmetrica hereditariain Nigeria; a

acral lesions proximally and lesions on the chest . On-

3,4

condition which may be misdiagnosed as vitiligo, lead-

set of DSH is usually in infancy and childhood, with

ing to the unnecessary use of potentially harmful and/or

progression and eventual stabilization prior to adoles-

expensive therapies by clinicians .

5,7

cence and this lasts for life, however, Gaiewski re-

9

It is hoped that our report has increased the list of differ-

ported a late onset presentation, with acral lesions begin-

entials of pigmentary disorders in our environment,

ning at the age of 26 years.

where most hypopigmentary lesions are often consid-

ered to be leprosy by the lay public. (a condition associ-

A number of other reticulate pigmentary disorders exist

ated with a high degree of stigmatization). We have also

which must be differentiated from DSH, they include:

highlighted the need for follow-up of children with DSH

dyschromatosis universalis hereditaria (DUH), which in

for the future documentation of known or novel associa-

contrast to DSH has a more widespread distribution;

tions

reticulate acropigmentation of Kitamura (RAK) which

presents with mottled solely hyperpigmented lesions

Conflict of interest: None

also on the dorsal extremities with associated palmar

Funding: None

References

1.

Toyama I. An unknown disorder

3.

He PP, He CD, Cui Y et al. Re-

5.

Consigli J, Gomez Zanni C, Ra-

of hyperpigmentation. Jap J Der-

fined localization of dyschromato-

gazinni L, Danielo C. Dyschroma-

matolUrol 1910 ; 10 : 644(In

sissymmetricahereditaria gene to a

tosissymmetricahereditaria: report

Japanese)

9.4-cM region at 1q21-22 and a

of a sporadic case. Int J Dermatol

2.

Oyama M, Shimizu H, Ohata Y,

literature review of 136 cases re-

2010:49: 918-20

Tajima S, Nishikawa T. Dyschro-

ported in China. Br J Dermatol

6.

El Darouti M, Marzouk SA, Fawzi

matosissymmetricahereditaria

2004;150(4):633-9

M et al. Reticulate acropigmenta-

(reticulate acropigmentation of

4.

Peng AC, Chen Y, Chao S

tion of Dohi: A report of two new

Dohi): report of a Japanese family

DyschromatosisSymmetrica-

associations. Int J Dermatol

with the condition and a literature

Hereditaria: A retrospective case

2004;43:595-6

review of 185 cases . Br J Derma-

series and literature review. Der-

tol1999; 140(3): 491-6.

matologicasinica 2013; 31: 19-24

392

7.

Alfadley, A., Al Ajlan, A., Hainau,

9.

Gaiewski CB, Serafini SZ, Werner

11. Tan HH, Tay YK. Neu-

B., Pedersen, K.-T., Al Hoqail, I.

B, Deonizio JMD.

rofibromatosis and reticulate

Reticulate acropigmentation of

“Dyschromatosissymmetricaheredi

acropigmentation of Dohi: A case

Dohi: a case report of autosomal

taria of late onset?”Case Reports

report. Pediatr Dermatol 1997;

recessive inheritance. J Am. Acad.

in Dermatological Medicine, vol.

14: 296-8

Derm 2000; 43: 113-117

2014, Article ID 639537, 3 pages,

8.

Lai ML, Yang LJ, Zhu XH, Li M.

2014. doi:10.1155/2014/639537

A novel mutation of the

10. Müller CSL, Tremezaygues L,

DSRADgene in a Chinesefamily

Pföhler C, Vogt T. The spectrum

with dyschromatosissymmetrica-

of reticulate pigment disorders of

hereditaria. Genet Mol Res

the skin revisited. Eur J Dermatol

2012;11: 1731-7

2012; 22(5): 596-604