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Intraoral malignant melanoma in a human albino
Abstract
A case of melanoma in an albino, the first to be reported with an intraoral site of origin, has been presented. The literature concerning melanoma, particularly as it occurs in the albino and in intraoral sites, has been reviewed.
... Journal of Pigmentary Disorders Yasumizu et al., Pigmentary Disorders 2015, 2:10 http://dx.doi.org/10.4172/2376-0427.1000218 Research Hybrid open access Pigmentary Disorders ISSN:2376-0427 JPD, hybrid open access journal Volume 2 • Issue 10 • 1000218 Author(s) Year No. of Cases Ethnicity Ref. No. Bhende 1952 1 Indian 47 Young 1957 1 NR 48 Leonardi 1958 1 NR 49 Higginson 1960 1 African 41 Kennedy 1963 1 NR 5 Oettle 1963 1 African 50 Duron 1965 1 NR 59 Garrington 1967 1 Caucasian 51 Oluwasanmi 1969 1 NR 53 Halama 1974 1 NR 6 Alpert 1978 1 Caucasian 7 Stoll 1981 1 African 54 Scott 1982 1 NR 8 Wood 1982 1 NR 52 Pehamberger 1984 1 Caucasian 55 Luande 1985 1 NR 9 Kinnear 1985 1 NR 56 Levine 1992 1 Caucasian 10 Ihn 1993 1 Asian 11 Casswell 1989 1 Caucasian 57 Schulze 1989 1 1 Caucasian Hispanic 58 Perry 2001 1 NR 12 Asuquo 2009 1 African 44 Mabula 2012 1 African 46 ...
Background: Patients with oculocutaneous albinism (OCA) are prone to develop skin cancers. Aim and Objectives: To analyze reports of skin cancers in albinos published in the English and the Japanese literature in order to prepare guidelines for the successful management of skin cancer in albinos. Methods and Materials: We searched on PubMed, Web of Knowledge for English literature, and Ichushi-Web for the Japanese literature. Results: Between 1978 and 2013, 11 malignant melanoma, 4 basal cell carcinoma, and 6 squamous cell carcinoma cases were reported in Japan. The subtypes of the 11 malignant melanomas were nodular in 7 cases, superficial spreading in 3 cases, and metastatic lesions in 1 case. Amelanotic melanomas comprised 7 of the 11 malignant melanoma cases in Japanese patients with OCA. Twenty-five malignant melanoma, 50 basal cell carcinoma, and 151 squamous cell carcinoma cases were reported worldwide in the English literature during the period between 1952 and 2013. Conclusion: Regular skin monitoring by board-certified dermatologists is required for adult OCA patients.
Although it is established that individuals with albinism have increased risks for nonmelanoma skin cancers, melanomas occurring in the setting of albinism are rare. PubMed and Google Scholar were searched for individual case reports describing melanoma in individuals with oculocutaneous albinism (OCA). All published cases characterizing individuals with albinism and melanoma in the medical literature were gathered to evaluate any epidemiologic or histologic differences from melanomas arising in the general population. Frequencies of melanoma characteristics between the OCA literature cohort and general population were compared using Clopper-Pearson confidence intervals. From 1952 to 2018, at least 64 cases of melanoma in 56 individuals with albinism were reported in the global medical literature. The median age of diagnosis for melanoma in individuals with albinism was 41 years, and the median Breslow depth at diagnosis was 2.0 mm. The subtypes of melanoma were nodular in 33% and superficial spreading in 46% of these cases, respectively. Amelanotic melanomas comprised 65% of the cases in our OCA cohort; however, histologic subtypes were only available for fourteen of the amelanotic cases. Finally, 17% of melanomas in patients with albinism arose from preexisting lesions. Despite their rarity, melanomas arising in oculocutaneous albinism have distinct characteristics from melanomas arising in the general population. Clinicians should consider a differential diagnosis of melanoma for any potential skin malignancies in individuals with albinism.
Tyrosinase positive oculocutaneous albinism is an inherited condition in which a failure of melanin syntesis predisposes to skin cancer. Most of these neoplasms are nonmelanocytic and, uncommonly, melanomas. We present a 40-year-old with a tyrosinase positive oculocutaneous albinism who developed a melanoma on the inferior third of the leg. The rarety of melanoma in albino patients (25 reported cases in the last 42 years) is a surprising fact and suggests the existence of an up-to-date unknown protective factor in albinos.
Oculocutaneous albinism (OCA) is a group of genetic disorders characterized by diminished pigmentation of the skin, hair and eyes. Individuals with OCA are at increased risk to develop sun-induced skin malignancies. The incidence of malignant melanoma in OCA individuals is, however, very low. The aim of this study was to document pigmented and melanocytic skin lesions occurring in patients with OCA.
A prospective study was performed. Sixteen patients with OCA presenting at the Oncology and Dermatology Departments at Universitas Academic Hospital Annex in Bloemfontein, South Africa, were included. Selected clinically pigmented and/or melanocytic lesions were biopsied and studied by light microscopy.
Twenty-four punch biopsies were taken. Ten dendritic freckles and 10 melanocytic nevi were confirmed histologically. The nevi, which occurred in eight patients, were found on sun-protected skin. All the freckles occurred on sun-exposed skin. Twelve patients had current or previous skin malignancies. No melanomas were present in the study population. Other skin lesions ranged from solar keratoses to squamous cell carcinomas.
The majority of pigmented lesions were dendritic freckles that occurred on sun-exposed skin. None of the patients had a current or previous diagnosis of malignant melanoma.
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Malignant melanoma is extremely rare in patients with albinism. To date, in the English language literature, there have been only sixteen documented cases of malignant melanoma in albino patients. These cases include thirteen cutaneous, one oral, one ocular, and one anal; only one of these was in a child. Here, we present the case of the youngest known albino patient to have cutaneous malignant melanoma. © 1992 Wiley-Liss, Inc.
Melanomas are rare in albinos, although the incidence of solar radiation-induced skin tumors is extremely high because of the absence of photoprotective melanin. This report describes a 40-year-old white woman with tyrosinase-negative oculocutaneous albinism who developed four primary amelanotic melanomas–three of the superficial spreading and one of the nodular type–and, in addition, displayed nevi that exhibited histologically the characteristic features of dysplastic nevi. The concomitant occurrence of multiple primary melanomas and several dysplastic nevi classifies the patient's condition as “dysplastic nevus syndrome,” which to our knowledge has not been described in albinism so far.
A case of pigmented naevi arising in an albino is described. The histological appearance of a naevus is described in the nature of the pigment discussed.
Sixty-five cases of oral malignant melanoma are reviewed, comprising 53 cases taken from the literature and 12 unreported cases. The classification of tumours on clinical and histopathological grounds is suggested to be comparable to that for cutaneous melanoma.
A human model for melanoma is a circumstance in which melanoma is particularly common. We can use models to gain an understanding of melanoma in two ways: (1) by studying the differences between the model and general susceptible population, we can link those differences to the etiology and pathogenesis of melanoma; (2) by studying differences in melanoma susceptibility among individuals in the model circumstances, we may be able to identify more readily etiologic factors and mechanisms. This article considers the potential of immunosuppression, xeroderma pigmentosum, albinism, psoralen photochemotherapy (PUVA), and artificial high-dose ultraviolet radiation exposures to serve as models for melanoma. Familial melanoma, another model, is discussed by Bergman and Fusaro elsewhere in this issue.
This article presents a review of oral malignant melanoma and other oral cavity pigmented lesions. The dismal prognosis for patients with oral malignant melanoma is partly due to patients' delayed recognition of signs of early disease and delayed diagnosis by physicians. Pigmented macules and plaques in the oral cavity, representing the radial growth phase of tumors, often go unrecognized for months or years before tumor invasion. Therefore, if early detection of thin oral melanomas is to be achieved, all pigmented oral cavity lesions should be viewed with suspicion. Biopsies of such lesions are indicated when the clinical diagnosis is uncertain. Prompt aggressive surgical treatment is essential in reducing the morbidity and mortality from oral melanomas. The differential diagnosis of oral melanomas includes nevi, oral melanotic macules, amalgam tattoos, Kaposi's sarcoma, oral melanoacanthoma, and physiologic pigmentation.
A case of dysplastic nevus syndrome in a 41-year-old tyrosinase-positive oculocutaneous albino man is presented. Clinically the patient exhibited multiple amelanotic lesions; histologic examination provided the diagnosis of dysplastic nevus syndrome. Fontana-Masson silver staining revealed the presence of melanin in the nevus cells. Hair bulbs incubated in tyrosine buffer produced melanin. This is the second reported case of dysplastic nevus syndrome in an oculocutaneous albino and the first case of dysplastic nevus syndrome in a tyrosinase-positive albino of which we are aware.
A low-grade mucoepidermoid tumor rich in melanin has been reported. According to the collective personal experience of the authors and a literature review, such lesions are thought to be rare. It is not anticipated that melanocytic participation will alter the prognosis; however, only long-term followup and reports of any similar lesions of salivary gland will assist in clarifying the nature and significance of this lesion.
Albinism is the term applied to a heterogeneous group of genetically determined disorders characterized by hypopigmentation and affecting the eyes. After describing the clinical features of albinism in general, the authors discuss the various forms of oculocutaneous albinism, ocular albinism, and albinoidism that are of interest to the ophthalmologist. Emphasis is placed on the ocular features of each form. The visual pathway abnormalities and the clinical management of albinism are discussed.
Four cases of albinism with haemorrhagic diathesis (Hermansky-Pudlak syndrome) are presented. The cases displayed wide phenotypic variation. Electroretinography was performed on all four patients and was found to be normal. One patient developed a cutaneous malignant melanoma.
Among neoplasms of skin, melanoma ranks as the most malignant. In Australia, primary malignant melanoma of the skin is relatively common, especially in Queensland.1 Mucosal melanoma, however, is uncommon. It is found primarily on the vulva but may occur in the anorectal region, vagina, noso-oropharyngeal regions and esophagus, and on the penis.2There have been few reports of oral mucosal melanomas in Caucasians. In Australia, primary malignant melanoma of the oral mucosa is rare. Since 1946, three cases have been recorded in the Victorian Cancer Registry (personal communication). It the porpose of the present communication to report a case of oral malignant melanoma, and to briefly review the pertinent literature.
A 54-year-old black woman with oculocutaneous albinism was found to have a lentigo maligna and, subsequently, a pigmented compound nevus on non-sun-exposed areas of her body. The diagnosis for these lesions was confirmed by the results of histopathologic study. To our knowledge, this is the first such case reported in the literature. This patient reemphasizes the fact that melanoma development is dependent on the presence of melanocytes, but not necessarily on melanogenesis. We propose that the rarity of melanomas in these patients may be caused by the protective effect of unknown systemic factors.
Melanomas are rare in patients who have albinism, compared with the frequent occurrence of squamous cell carcinomas and basal cell carcinomas. This report describes amelanotic metastatic melanoma in a 58-year-old Japanese man who had tyrosinase-positive oculocutaneous albinism. A prolonged bleeding time, facioscapulohumeral muscular dystrophy, and Gilbert syndrome were also present. Superficial spreading melanoma with evidence of spontaneous regression on his right forearm was suspected as a possible primary site. Twenty-two cases of melanomas in persons who have albinism have been reported.
The nasal cavity is a rare location for primary malignant melanoma, borne out by the few cases reported in the literature since 1940. Rarest of all is nasal melanoma in a patient with oculocutaneous albinism. An albino subject, aged 33, was referred to us with this diagnosis. Because of the numerous metastases in the liver and left lung, we did not advise radical surgical intervention and, despite hyperfractionated high dose radiotherapy and chemo-immunotherapy, the advanced stage of disease caused the death of the patient within a year. We have reviewed the diagnostic, clinical and therapeutic aspects, and the literature on melanomas of the nasal cavity in albino subjects. We performed a Medline literature search, examining only 'extensive' papers and excluding abstracts or case reports presenting poor data.
Sun-induced malignancies (basal cell and squamous cell carcinomas) are common in oculocutaneous albinism, however, the incidence of malignant melanoma is a topic of controversy.
We have reviewed the literature and report a case of a woman with oculocutaneous albinism with an amelanotic melanoma of the anterior chest wall.
There are only 26 previously reported cases (both case reports and African albino population studies) in 25 patients in the literature. A 27th case with immunohistochemical and ultrastructural evaluation is presented.
It appears that melanoma, a malignancy for which sun exposure and light colouration are felt to be major risk factors, has a low incidence among a population that is both hypopigmented and often exposed to high levels of ultraviolet light. This low incidence is poorly understood and frequently disputed.
Malignant melanomas appear in such sun-shielded areas as the vulva, challenging conventional knowledge that they are associated with UV radiation. Based on 1442 patients with vulvar melanomas the tumors' epidemiology, clinical manifestations, histopathology, molecular genetics, treatment strategies, and prognosis were surveyed. Despite their sun-shielded location and rare incidence, vulvar melanomas were, on average, more dense than melanomas on the body surface and nearly the density of melanomas in chronically sun-exposed skin of the head and neck. Vulvar melanomas differed markedly from cutaneous melanomas, as evidenced by histopathological lesions and molecular genetics. Most melanomas were located on the glabrous skin as opposed to the hairy skin within the vulva and differed significantly in biological properties. The prognosis for the patients was poor, and in the 11 largest studies of surgical strategies, none offered a significant survival advantage. Tumor thickness and ulceration were usually significant predictors of (poor) prognosis in multivariate analyses along with macroscopic amelanosis, angioinvasion or DNA non-diploidy in some reports. Clear-cut biological differences between vulvar and cutaneous melanomas and between melanomas within different vulvar sites provide new paths for extensive research on melanomagenesis and for potential therapies. Additionally, studies of vulvar and other extracutaneous melanomas should characterize subgroups of cutaneous melanomas and identify their cause(s), which are apparently not linked to UV radiation.
In a previous paper1 we have reported the results of silver and dopa reactions performed on normal and vitiliginous skins. It seems pertinent to do similar studies on the skins of patients suffering from incomplete generalized albinism. Incidental to these studies, which entailed exposing our subjects to progressively increasing doses of ultraviolet light, we were able to observe these patients during their change in capacity to tolerate sunlight.Incomplete generalized albinism has been defined as a congenital failure to form melanin pigment in the skin, hair, and eyes. As far as we know, complete albinism in humans does not occur.Materials and Methods
Our patients were 5 typical albinos: 4 Caucasians and 1 Negro. Their hair color varied from offwhite to light straw color; all of them exhibited nystagmus; 2 had the classical pink reflex to light in their eyes; the irises of 4 patients were blue, and those
We have discussed in detail a case of malignant melanoma of the alveolar mucosa in a 64-year-old white woman who died of widespread metastases. The tumor had developed from a pre-existing pigmented patch which had been present for at least three years. The neoplasm was considered to have originated in the oral mucosa, since it met three reliable criteria set up by Green and associates.7 Finally, it has been suggested that the higher incidence of malignant melanoma in the maxilla could be due to the presence of an increased number of active melanoblasts at this site.
The diagnosis of a malignant melanoma in a pure albino patient was clearly established by electronmicroscopic demonstration of premelanosomes and melanosome structures in the amelanotic cancer cells. It appears that the melanocyte is necessary for the development of this cancer, but the metabolic pathway for melanin production is not. The latter is a guide to the chemotherapeutic control of melanomas. Removal of nevi or birthmarks in albinos may prevent the development of this cutaneous malignancy.
Malignant melanoma is a neoplasm whose course is capricious and unpredictable. Even the most experienced eye encounters difficulty in early recognition of this tumor. The three examples of melanoma on this page are variations from the usual pattern and in each instance provide the clinician with important information. Proper management depends on accurate interpretation of this information.
Amelanotic melanoma (Fig 1) differs from pigmented melanomas only in that the melanocytes do not produce melanin. Highly malignant, this erythematous or flesh-colored nodule arouses suspicion by its erosion and destruction of normal cutaneous structures. Neither more nor less malignant than its pigmented counterpart, the amelanotic lesion is particularly dangerous because it is often unrecognized.
Juvenile melanoma (Fig 2) occurs in prepubertal children and represents a melanocytic nevus which is undergoing such rapid evolution that the microscopic appearance suggests malignancy. These tumors are benign with very rare exceptions. Interpretation by an experienced pathologist
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