|LETTER TO THE EDITOR
|Year : 2022 | Volume
| Issue : 3 | Page : 227-230
Dyschromatosis universalis hereditaria with keratoacanthoma: a rare presentation
Veena Thimmappa1, Rajatha Anand2, Sachin Shivayogappa Shabadi3, Narendra Gangaiah1
1 Department of Dermatology, Siddhartha Medical College, Tumkur, Karnataka, India
2 Department of Pathology, Siddhartha Medical College, Tumkur, Karnataka, India
3 Consultant Plastic Surgeon, Siddhartha Medical College, Tumkur, Karnataka, India
|Date of Submission||11-May-2020|
|Date of Decision||26-Apr-2021|
|Date of Acceptance||20-May-2021|
|Date of Web Publication||30-Nov-2022|
Department of Dermatology, Sri Siddhartha Medical College, Tumkur, Karnataka 572107
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Thimmappa V, Anand R, Shabadi SS, Gangaiah N. Dyschromatosis universalis hereditaria with keratoacanthoma: a rare presentation. Pigment Int 2022;9:227-30
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 pigmentarydermatosis. DUH is a rare genodermatosis 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.,
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 abortive malignancies that closely resemble squamous cell carcinoma.
A 52-year-old male shopkeeper presented to the outpatient department with generalized mottled pigmentation since childhood, these lesions had 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 parentage following an uneventful pregnancy. There was a history of similar lesions in the youngest sister among six siblings, while his parents and his son were unaffected. There was no history of photosensitivity, handling of chemical, 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 1]a,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 Dyschromatosis (diffuse hyperpigmented and with guttate hypopigmented macules) over the trunk upper and lower limb.|
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Laboratory investigations including complete hemogram, renal and liver function tests, HIV, and VDRL 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 (a and b) Histopathologic images showing hyperkeratotic epithelium, overlying connective tissue stroma, and central keratin core.|
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The DUH shows equal sex preponderance. Although most cases show an autosomally dominant pattern inheritance, few have an autosomally recessive fashion. Our patient's parents had no features suggestive of DUH. The precise etiology of this disorder is not yet known; ultra-structural skin study revealed that DUH is a disorder of melanosome synthesis rate or melanocyte activity and not a disorder of melanocyte numbers.
The DUH presents 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 [Figure 1]a,b. Facial lesions are seen in almost 50% of affected individuals, but the involvement of palms, soles and nails is unusual.,, 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, learning difficulties, diabetes mellitus, teeth abnormalities, small stature, deafness, and photosensitivity. No such features were present in our patient. The dyschromias lead to cosmetic disfigurement which causes significant psychosocial consequences.,,,
Lesions of DUH were differentiated from Xeroderma pigmentosum since 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 differentials like 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 [Figure 2]. The annual incidence varies according to geographical location, an estimated of 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., 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., 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.[
In specific groups of patients having any of the range of photosensitive disorders, disorders of pigmentation at an altered or less melanin levels allow UVR to lead chronic effects including freckles, wrinkling, and precancerous lesions such as keratoacanthoma. Thus, photoprotection is an important strategy to reduce skin cancers and prevents photoaging by deleterious effects of ultraviolet rays. To increase the photoprotection, it is important to avoid solar exposure at times of peak intensity; use of cover-up garments and sunscreen are effective combinations for protection in sunny and cloudy days. Thompson showed that the beneficial effect of regular sunscreen application on a daily basis reduced incidence of actinic keratoses.,, He was also advised for photoprotection and avoid any trauma to prevent further development of new keratoacanthoma, guidance regarding sunscreen use, on the proper amount, uniform application; reapply every 2 h, or after excessive sweating or immersion in water. He was asked to have balanced diet as number of natural antioxidants exhibit protective and reparative effects against different oxidative stress and a monthly self-cutaneous examination, looking for nonhealing lesions that bleed, crust, or other suspicious lesions. Any of these warning signs should be notified to a physician to diagnose 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 Indians and characteristic keratoacanthoma over the upper limb. DUH is an irreversible cutaneous pigmentary dermatosis with no specific therapeutic procedure. Genetic counseling and photoprotection is 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.
| References|| |
Namitha P, Sacchidanand S. Dyschromias: a series of five interesting cases from India. Indian J Dermatol 2015;60:636.
] [Full text]
Naik CL, Singh G, Rajashekar TS, Okade R. Dyschromatosis universalis hereditaria. Indian J Dermatol 2009;54(Suppl S1):74–5.
Shim TWH, Naidu S, Lim J, Lim TC. Common benign and malignant neoplasms of the skin. Singapore Med J 2008;49:6-17.
Bukhari IA, El Harith EA, Stuhrmann M. Dyschromatosis universalis hereditaria as an autosomal recessive disease in five members of one family. J Eur Acad Dermatol Venereol 2006;20:6289.
Kim NS, Im S, Kim SC. Dyschromatosis Universalis Hereditaria: an electron microscopic examination. J Dermatol 1997;24:61-4.
Dutta A, Ghosh SK, Mandal RK. Dyschromatosis symmetrica hereditaria with neurological abnormalities. Indian J Dermatol Venereol Leprol 2014;80:549-51.
] [Full text]
Gupta M. Dyschromatosis universalis hereditaria with sensorineural hearing loss. Egypt J Dermatol Venereol 2016;36:26-7.
Kaliyadan F, Vinayan KP, Fernandes B, Jayasree MG. Acral dyschromatosis with developmental regression and dystonia in a seven-year-old child: Dyschromatosis symmetrica hereditaria variant or a new syndrome?. Indian J Dermatol Venereol Leprol 2009;75:412-4.
] [Full text]
Schwartz RA. Keratoacanthoma: a clinico-pathologic enigma. Dermatol Surg 2004;30:326-33.
Musumeci ML, Lacarrubba F, Gibilisco R, Micali G. Multiple reactive keratoacanthomas in a patient with hypertrophic lichen planus treated with cyclosporine: Successful treatment with acitretin. Indian J Dermatol Venereol Leprol 2014;80:374-6.
] [Full text]
Rai R, Srinivas CR. Photoprotection. Indian J Dermatol Venereol Leprol 2007;73:73-9.
] [Full text]
Sarkar R, Garg VK, Jain A et al.
A randomized study to evaluate the efficacy and effectiveness of two sunscreen formulations on Indian skin types IV and V with pigmentation irregularities. Indian J Dermatol Venereol Leprol 2019;85:160-8.
] [Full text]
Thompson SC, Jolley D, Marks R. Reduction of solar keratoses by regular sunscreen use. N Engl J Med 1993;329:1147-51.
[Figure 1], [Figure 2], [Figure 3]