|Year : 2015 | Volume
| Issue : 1 | Page : 44-47
Mottled pigmentation with neuropathy, an enigma solved!
Madhukara Jithendriya, Gillian R Britto
Department of Dermatology, St. John's Medical College Hospital, Bengaluru, Karnataka, India
|Date of Web Publication||26-Jun-2015|
St. John's Medical College, Bengaluru - 560 034, Karnataka
Source of Support: None, Conflict of Interest: None
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 having involvement of palms and soles, flexures and ocular mucosa. He also had signs of neuropathy, which on further evaluation turned out to be pure neuritic Hansen's disease.
Keywords: Compression neuropathy, dermatoglyphics, dyschromatosis universalis hereditaria, mottled pigmentation
|How to cite this article:|
Jithendriya M, Britto GR. Mottled pigmentation with neuropathy, an enigma solved!. Pigment Int 2015;2:44-7
| Introduction|| |
Reticulate pigmentary disorders (RPD), is not an uncommon clinical presentation in our practice. It is a common differential diagnosis in diseases such as xeroderma pigmentosum, chronic radiodermatitis, cutaneous amyloidosis, malnutrition, topical application of chemicals (e.g., monobenzyl ether of hydroquinone) and poikilodermatous syndromes. Differentiation from each other will help us in proper counseling of our patients.
In this case report, we present - a patient with mottled pigmentation and neuropathy, which later, upon further evaluation turned out to be dyschromatosis universalis hereditaria (DUH) with pure neuritic Hansen's disease.
| Case Report|| |
A 29-year-old man, born of second degree consanguineous parents, presented with asymptomatic pigmented lesions all over the body since infancy [Figure 1], [Figure 2], [Figure 3], [Figure 4] and [Figure 5]. Gestational period and childbirth were uneventful, and he had normal developmental milestones. Except for decreased sensation on the lateral aspect of the left foot since 3 months, there was no other systemic illness. Other family members gave history of similar pigmentation [Figure 6].
|Figure 1: Mottled pigmentation over the palms. "Ridge off the end" pattern of dermatoglyphics are seen, which is prominent at the tips of the fingers|
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|Figure 5: Close up view of the hypo and hyper pigmented macules and patches on the patient|
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Cutaneous examination demonstrated mottled pigmentation in a background of diffuse hyperpigmentation distributed symmetrically mainly over the face, neck, trunk, dorsa of hands and feet, palms and soles, in the absence of atrophy and telangiectasia [Figure 1] and [Figure 2]. His dermatoglyphics showed "ridge off the end" pattern loss. Few of the nails had linear hyperpigmentation, and the great toe nails were dystrophic. Reticulate pigmentation was seen in the oral mucosa, cornea and sclera [Figure 7]. Neurological examination was within normal limits, there was no sensory loss, motor weakness, nerve tenderness or nerve thickening. Six sites acid fast bacilli smear was done, which was negative. Skin biopsy showed areas of increased basal melanin and pigmentary incontinence [Figure 8]. ENT examination showed high tone audiometry deficits in both ears. As left sural nerve axonopathy was detected on electroneuromyography testing, nerve biopsy of the same showed features of borderline tuberculoid Hansen's disease.
|Figure 8: Histopathology showing areas of increased basal melanin and pigmentary incontinence (H and E, ×40)|
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| Discussion|| |
Reticulate pigmentary disorders encompass a rare heterogeneous group of disorders, characterized by hyperpigmented macules coalescing in a reticular pattern, interspersed with hypopigmented macules.  RPD are divided into two broad categories: Acral and generalized. The various acral RPD include reticulate acro-pigmentation of Kitamura, acro-pigmentation of Dohi, acral melanosis heterochromia extremitarium, and dyschromia symmetrica hereditaria. The differential diagnoses of generalized RPD are DUH, dermatopathia pigmentosa reticularis, Naegeli-Franceschetti-Jadassohn syndrome and amyloidosis cutis dyschromica.
Dyschromatosis universalis hereditaria was considered in our case, because of the absence of features of the above conditions such as, alopecia, onychodystrophy, fading of pigmentation in adolescence, keratoderma, enamel hypoplasia, hypohidrosis, heat intolerance and leukokeratosis [Table 1].
Dyschromatosis universalis hereditaria was first described in 1929 by Toyamo in Japan.  About 80% of the patients present within the age group of 6 years.  Later onset of the disease has been reported even in adulthood or in the sixth decade of life.  The trunk and the extremities are the dominant sites involved.  Except for a few reports of involvement of palms,  soles and oral mucosae, they are generally spared. , Generally, DUH does not progress or worsen with age, once well established. 
Dyschromatosis universalis hereditaria may be a disorder of inherited genetic defects that disrupts the normal processes involved in melanogenesis. Two loci responsible for DUH are chromosome 6q and 12q.  Recently, ABCB6 has been identified as the first pathogenic gene associated with DUH.  The histopathology typically shows a focal increase or decrease in melanin content of the basal layer (depending on the type of the lesion biopsied) and occasionally pigmentary incontinence. 
This case is presented because of its rarity and unusual occurrence of pigmentation over palms, soles, face and sclera with high tone deficits in audiometry with typical histology.  This case differs from published reports by involvement of the flexures, "ridge off the end" pattern loss dermatoglyphics. Recognition and differentiation of this "generally being cosmetic genetic defect" from serious poikilodermatous conditions help in proper counseling and prognostication. Even though, compression neuropathy is a well-known entity associated with DUH,  we need to keep our eyes open to recognize common conditions, like Hansen's disease. It is difficult to recognize the patches of Hansen's disease because of the presence of mottled pigmentation in these reticulate disorders, like in our case the signs of compression neuropathy actually turned out to be Hansen's disease by nerve biopsy.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8]