Pigment International

: 2022  |  Volume : 9  |  Issue : 1  |  Page : 55--58

Dyschromatosis universalis hereditaria with keratoacanthoma: a rare presentation

 Department of Dermatology, Sri Siddhartha Medical College and Hospital, Tumkur, Karnataka, India

Correspondence Address:
Dr. Veena
Department of Dermatology, Sri Siddhartha Medical College and Hospital, Tumkur, Karnataka, 572107


Dyschromatosis Universalis hereditaria is a rare pigmentary disorder presenting with dyschromia of skin involving trunk and extremities arranged in mottled manner lesions, usually present in the first few years of life. Herein, we report this extremely rare case of dyschromatosis universalis hereditaria in a middle-aged male with a family history of dyschromia in his younger sister, now presenting to us with a keratoacanthoma.

How to cite this article:
Veena. Dyschromatosis universalis hereditaria with keratoacanthoma: a rare presentation.Pigment Int 2022;9:55-58

How to cite this URL:
Veena. Dyschromatosis universalis hereditaria with keratoacanthoma: a rare presentation. Pigment Int [serial online] 2022 [cited 2022 Aug 16 ];9:55-58
Available from: https://www.pigmentinternational.com/text.asp?2022/9/1/55/345302

Full Text


Dyschromatoses are a group of disorders characterized by both hyperpigmented and hypopigmented macules. The spectrum of diseases includes dyschromatosis universalis hereditaria (DUH), dyschromatosis symmetrica hereditaria, Dowling–Degos disease, and unilateral dermatomal pigmentary dermatosis. DUH is a rare genodermatoses characterized by cutaneous dyschromatoses sparing palms and soles, first described by Ichikawa and Hiraga in 1933 and has been reported mostly from Japan and few cases from Europe, China, Saudi Arabia, and India.[1],[2]

Skin tumors form an important component of several genodermatoses. These range from benign that cause cosmetic concern to premalignant and aggressive tumors. Keratoacanthoma is one such unique squamoperoliferative tumor mainly observed over the sun-exposed hair-bearing area, in middle age to older. It is an abortive malignancy that closely resembles squamous cell carcinoma.[3]


A 52-year-old male shopkeeper presented to the outpatient department with generalized mottled pigmentation since childhood. The patient had lesions started over the trunk and spread to extremities and face over 15 years. His present complaint was a rapidly increasing painless solid lesion over the left forearm for 2 weeks.

He was born to healthy nonconsanguineous parents following an uneventful pregnancy. There is a history of similar lesions in the youngest sister among six siblings, whereas his parents and his son are unaffected. There was no history of photosensitivity, handling of chemicals, drug intake, or preceding other dermatoses and systemic illness.

Cutaneous examination revealed numerous, discrete and irregular-shaped spotty hypo- and hyperpigmented macules of various sizes distributed bilaterally on the trunk, limbs, neck, and face [Figure] 1a,b. A 1 cm × 1 cm measuring nodule with central keratin core over left forearm [Figure 2]. Examination of eye, hair, nail, oral cavity, and other systems were within normal limits.{Figure 1}{Figure 2}

Laboratory investigations including complete hemogram, renal and liver function tests, HIV, and Venereal Disease Research Laboratory (VDRL) test were within normal limits. The abdominal ultrasonogram showed no abnormality.

Histopathologic examination from the nodule showed crateriform architecture with hyperkeratotic, hyperplastic epithelium, and a central horn plug of keratin. The underlying stroma showed loose connective tissue with few areas of congested vessels and inflammatory infiltrate suggestive of keratoacanthoma [Figure 3]a,b. The diagnosis of DUH with keratoacanthoma was made based on clinical and histopathologic features.{Figure 3}


The DUH shows equal sex preponderance. Although most cases show an autosomally dominant pattern inheritance, few have an autosomally recessive fashion.[4] Our patient’s parents had no features suggestive of DUH. The precise etiology of this disorder is not yet known; an ultra-structural skin study revealed that DUH is a disorder of melanosome synthesis rate or melanocyte activity and not a disorder of melanocyte numbers.[5]

The patient reported DUH present with symmetrically distributed dyschromia since early life. The pigmented macules vary in size (1–5 mm) and depth of color. The trunk and the extremities are commonly involved. Facial lesions are observed in almost 50% of affected individuals, but the palms, soles, and nails involvement are unusual.[1],[5],[6] Because the exact biochemical basis of the gene defect is unknown, the diagnosis generally relies on the external phenotype.

The DUH may be associated with abnormalities of other systemic complications including tuberous sclerosis, X-linked ocular abnormalities, albinism, neurologic manifestations, teeth abnormalities, small stature, deafness, and photosensitivity. No such features were present in our patient. The dyschromia leads to cosmetic disfigurement which causes significant psychosocial consequences.[1],[6],[7],[8]

Lesions of DUH were differentiated from xeroderma pigmentosum, as both patients clinically show lesions in photoexposed areas. However, in DUH, lesions occur in the unexposed sites as well. Moreover, the lesions show no atrophy or telangiectasia and run a benign course. In general, DUH does not progress or worsen with age. Other differential inherited reticulate pigmentary disorders such as dermatopathia pigmentosa reticularis and Naegeli–Franceschetti–Jadassohn syndrome were ruled out due to the absence of characterized features. No history of exposure to chemicals such as arsenic, diphenylcyclopropenone, and monobenzyl ether of hydroquinone was present in our patient.

Keratoacanthoma presents as bud- or dome-shaped lesions with a central keratinous crater. The annual incidence varies according to geographical location, with an estimated 104 cases/100,000 in Hawaii as high as 150 cases/100,000 in Australia. The predilection of keratoacanthoma for sun-exposed areas suggests ultraviolet radiation (UVR) is an important etiologic factor. Other possible factors in pathogenesis include immunosuppression, exposure to chemical agents, human papillomavirus infection, reactive keratoacanthomas, as a consequence of inflammatory, or infectious dermatoses, physical trauma, or chronically injured skin and genetic aberrations have been suggested to play an etiologic role.[3],[9] We believe the most likely etiologic factors for keratoacanthoma in our patient could be genetic susceptibility stimulated by epithelial injury by UVR.

Rapid growth occurs within 6 weeks, followed by a period of involution, leaving a pitted scar. Progression to squamous cell carcinoma has been reported.[3],[9] For solitary lesions, surgical excision is desirable. Moh microsurgery is carried out for lesions over critical anatomical locations or large lesions. They can recur in up to 8% of cases, especially on hands, fingers, lips, and ears.[10] Thus, excision biopsy was performed in the suspected case with a history of a rapidly grown lesion.

In specific groups of patients having any of the range of photosensitive disorders, disorders of pigmentation altered or fewer melanin levels allow UVR leads to chronic effects such as freckles, wrinkling, and precancerous lesions such as keratoacanthoma. Thus photoprotection is an important strategy to reduce skin cancers and prevent photoaging by deleterious effects of ultraviolet rays. To increase the photoprotection, it is important to avoid solar exposure at times of peak intensity and to use cover-up garments, and sunscreen is an effective combination for protection on sunny and cloudy days. The study by Sarkar et al. evaluates the efficacy and effectiveness of two sunscreen formulations on Indian skin types IV and V with pigmentation irregularities. The study also showed that the regular usage of sunscreen products with moderate sun protection factor and high PA+++ values offer efficient protection against pigmentation irregularities and improve the overall skin radiance. Thompson et al. showed the beneficial effect of regular sunscreen application daily reduced incidence of new actinic keratoses.[11],[12],[13]

The patient was also advised for photo-protection and avoids any trauma to prevent further development of new keratoacanthoma, guidance regarding sunscreen use, on the proper amount, uniform application; reapply every 2 hours, or after excessive sweating or immersion in water. He was asked to have a balanced diet as many natural antioxidants exhibit protective and reparative effects against different oxidative stress and a monthly self-cutaneous examination, looking for non-healing lesions that bleed, crust, or other suspicious lesions. And to be notified to a physician to catch the skin cancer at its primary stage and to avoid delayed and aggressive presentations, more often observed in dyschromatosis condition.

We reported this case because of its rarity in Indian and characteristic premalignant lesion keratoacanthoma over the upper limb. DUH is an irreversible cutaneous pigmentary dermatosis with no specific therapeutic procedure. Genetic counseling and photoprotection are advised. Cutaneous neoplasm in DUH needs to be addressed with proper counseling and surgery as an effective therapeutic regimen.

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Conflicts of interest

There are no conflicts of interest.


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