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PubMed2003

A novel epidermal nevus syndrome with congenital cylindromatous turban tumor.

BACKGROUND: Epidermal nevi (in the broad sense of epithelial nevi) may give rise to benign or malignant skin tumors. They may also be associated with anomalies of other organ systems in an epidermal nevus syndrome. RESULTS: This article describes a preterm infant with nevus sebaceus of the scalp and face, a large turban tumor with features of malignant cylindroma and multiple non-cutaneous defects. These included skeletal, hematopoietic, hepatobiliary, and urinary anomalies. Severe secondary lesions were present (pulmonary hypoplasia due to oligohydramnios; cerebral infarcts probably related to the turban tumor). Karyotype was normal, and family history was negative. CONCLUSIONS: This unique case is unlike any reported epidermal nevus syndrome. Similarly, there is no prior report of a congenital cylindroma, certainly not as a turban tumor, which implies very rapid growth. The presence of both overgrowth and undergrowth phenomena (e.g. hypoplastic urinary tract and biliary atresia) may reflect dysregulation of paracrine growth factors, presumably due to genetic mutation.

Abnormalities, Multiple↗
PubMed2000

Depigmented hypertrichosis following Blaschko's lines associated with cerebral and ocular malformations: a new neurocutaneous, autosomal lethal gene syndrome from the group of epidermal naevus syndromes?

The lines of Blaschko represent one of the cutaneous patterns of mosaicism followed by various skin disorders. Developmental abnormalities affecting other tissues derived from the embryonic ectoderm and mesoderm are occasionally associated. We describe a 30-year-old man with depigmented, bilateral hypertrichosis and dilated follicular orifices following Blaschko's lines associated with cerebral and ocular malformations. The findings suggest a previously unreported neurocutaneous, autosomal lethal gene syndrome from the group of epidermal naevus syndromes.

Adult↗
PubMed1999

Small cell type malignant melanoma which developed in a 16-year-old female with a congenital dermal nevus and metastasized 12 years after excision.

A case of malignant melanoma arising from a congenital dermal nevus on the right forehead of a 16-year-old female is presented. In the mole, small pigmented nevoid cells gathered around the skin appendages and between the collagen fibers. From the age of 17, a verrucous nevoid melanoma consisting of lymphoblast-like large nevoid cells, which were positive for HMB-45 and had a high Ki-67 index up to 18.7%, gradually increased in size. The melanoma cells vertically invaded the dermis to a depth of 3 mm and radially spread in the papillary dermis. Twelve years after undergoing a wide local resection and additional chemotherapy, metastatic lesions were found in the lung and the anterior mediastinum, which gradually increased in size and caused death a few months later. Metastatic melanoma cells were positive for HMB-45 and had a high Ki-67 index up to 33.7%. Most metastatic melanoma cells were positive for p53 while the primary ones were negative. Deteriorating mutations probably accumulated during the latent period.

Adolescent↗
PubMed2003

[Optical coherence tomography versus ultrasound biomicroscopy of conjunctival and eyelid lesions].

BACKGROUND: The value of ultrasound biomicroscopy in the diagnosis of conjunctival and eyelid lesions is still unknown. METHOD: For the examination of conjunctival and eyelid lesions, we used an anterior segment OCT (4optics, Lübeck) and an ultrasound biomicroscope (Humphrey, Zeiss, Oberkochen) with high frequency transducer (30 MHz). Included in this study were all patients with conjunctival and eyelid lesions, which were consecutively operated on between December 2002 and January 2003. Histological examination of the excised tissue was performed. RESULTS: 38 tumours of 35 patients, aged 8 - 93 years, were examined. 13 tumours were conjunctival lesions and 25 tumours were eyelid lesions. Histological examination displayed the presence of a pterygium (8/38), a seborrhoic keratosis (7/38), a cyst of the eyelid (5/38), a basal cell carcinoma of the eyelid (4/38), a compound naevus of the conjunctiva (4/38), a chalazion (3/38), a primary acquired melanosis (1/38), an actinic keratosis (1/38), a naevus (1/38), a cavernous haemangioma (1/38), a melanoma in situ (1/38), a foreign body (1/38), and an epidermoid cyst (1/38). Using both ultrasound biomicroscopy and optical coherence tomography (OCT) we were able to demonstrate a cystic tumour in the five patients (13 %) with a cyst of the eyelid. With OCT and with ultrasoundbiomicroscopy in all patients with pterygium a slit was found and in patients with compound naevus very small cystic structures were seen, but with OCT the imaging was more reliable. In patients with solid tumours the definite diagnosis could not be differentiated by ultrasound biomicroscopy or OCT alone. Using OCT, assessment of the margins of the tumours (particularly in depth) was impossible or uncertain. CONCLUSION: Compared to ultrasound biomicroscopy OCT is able to show very small cystic structures more distinctly. For assessing the margins of the tumour ultrasound biomicroscopy is the better tool.

Adolescent↗
PubMed2000

Porokeratotic eccrine ostial and dermal duct nevus: a case report and review of the literature.

Hamartomas with eccrine differentiation are quite rare. There are 5 accepted classifications: eccrine nevus, eccrine-centered nevus, eccrine angiomatous hamartoma, eccrine syringofibroadenoma, and porokeratotic eccrine ostial and dermal duct nevus. The latter, PEODDN, typically presents as congenital keratotic papules and plaques located on the distal extremities. We report a classic case of PEODDN that was localized to the left hand since early childhood. The literature on this rare benign tumor is also reviewed.

Eccrine Glands↗
PubMed2004

Epidermal naevus syndrome (Solomon's syndrome) associated with bladder cancer in a 20-year-old female.

Epidermal naevus syndrome was first described by Solomon et al. in 1968, based on a study of 12 patients. Herein we report the case of a 20-year-old female diagnosed with epidermal naevus syndrome at the age of 3 years. Subsequently she experienced several different symptoms and at the last exploration a suspicious lesion was found in her bladder. The definitive pathology diagnosis was transitional cell carcinoma of the bladder, which is extremely rare in patients aged <21 years. It seems that this neoplastic lesion was directly related to the essential pathology of the patient, namely epidermal naevus syndrome.

Adult↗
PubMed1994

Morphometric, DNA, and proliferating cell nuclear antigen measurements in benign melanocytic lesions and cutaneous malignant melanoma.

Morphometric, DNA, and proliferating cell nuclear antigen (PCNA) measurements were taken of benign melanocytic tumors and malignant melanomas. Significant differences between lesion groups according to Krushell-Wallis analysis were found in terms of mean nuclear area, coefficient of variation (cv) of nuclear area, cv of nuclear shape nuclear contour index (NCI), mean and cv of nucleolar area, DNA 2.5 c and 5 c exceeding rates, and PCNA positivity. A logistic regression analysis with respect to banal nevi versus primary malignant melanoma showed that the cv of nuclear area and the DNA 2.5 c exceeding rate were significant independent predictors. Nuclear polymorphism, i.e., the cv of nuclear shape NCI, was larger in metastasizing primary melanomas than in thin nonmetastasizing primary melanomas. PCNA positivity was occasionally increased in keratinocytes adjacent to nevi or melanomas. Larger values for nuclear area, DNA aneuploidy, and PCNA positivity were found in thick malignant melanomas and melanoma metastases than in benign melanocytic lesions and thin malignant melanomas. Morphometry, DNA content, and PCNA positivity thus seem to reflect different stages in tumor progression of malignant melanoma.

Adolescent↗
PubMed1995

The pattern of HMB-45 antibody staining in compound Spitz nevi.

We studied the staining pattern of HMB-45 antibody in 29 compound Spitz nevi (SNs) of the epithelioid cell variety, 17 of which showed extension of nevus cells into the reticular dermis (i.e., "deep"); 20 ordinary compound nevi (CNs), all with a deep dermal component; and 22 primary cutaneous invasive malignant melanomas (MMs) (excluding the desmoplastic and spindle cell types), 12 of which extended into Clark level IV or V. Of the 29 SNs, eight (28%) stained negatively; five (17%), including two deep SNs, stained in the epidermal component only; and 16 (55%), including 10 deep SNs, stained in both the epidermal and dermal components. Of the latter 10 deep SNs, eight stained in the upper dermis only, and in the remaining two lesions, a smaller number of positively stained nevus cells were detectable in the lower dermis as well; these two SNs were not atypical histologically. Of the 20 CNs, four (20%) stained negatively, two (10%) stained in the epidermal component only, and 14 (70%) stained in the epidermal component and the upper dermis only. Of the 22 MMs, one stained negatively, and 21 (95%) stained positively in both the epidermal and dermal components. The pattern was variable in frequency of both staining and distribution, but showed no stratification. We conclude that the majority of our positively stained deep compound SNs showed a stratified pattern of HMB-45 staining, similar to ordinary CNs and different from MMs, and that this pattern might be used as an adjunct in the histopathologic differential diagnosis of compound SN and MM, in the proper clinicopathological context.

Adolescent↗
PubMed1995

Immunohistochemical study of p53 protein expression in Spitz nevus as compared with other melanocytic lesions.

The accumulation of p53 protein was studied immunohistochemically on paraffin-embedded sections of 26 Spitz nevi (SNs), 26 primary invasive cutaneous malignant melanomas (MMs), 20 metastases of MM, and 17 ordinary compound nevi (CNs), using monoclonal antibody BP53-12. Positive reactivity was detected in some of the tumor cells in seven (35%) metastatic MMs, all exhibiting strong nuclear staining; eight (31%) primary MMs, of which seven showed strong nuclear staining; two (7%) SNs, of which only one showed strong nuclear staining; and none of the CNs. The frequencies of the positively stained lesions in general, and the strongly positively stained lesions in particular, in the MM and metastatic MM groups were each statistically significantly higher than the respective frequencies in the SN and CN groups. We believe that the immunohistochemical detection of p53 protein with the use of monoclonal antibodies such as BP53-12 on paraffin sections, especially when strong nuclear reactivity is demonstrated, may prove to be an adjunctive tool in the histopathologic differentiation of MM from SN.

Adolescent↗
PubMed1997

Spitz nevus.

Explore the source record for details and available documents.

Adult↗
PubMed2002

Expression of melanocyte differentiation antigens and ki-67 in nodal nevi and comparison of ki-67 expression with metastatic melanoma.

Nodal nevi represent a potential diagnostic pitfall in the analysis of lymph nodes. They may be confused with metastatic melanoma or carcinoma. Although several morphologic guidelines exist for the recognition of nodal nevi, on occasion immunohistochemical studies may be helpful for diagnosis, especially when melanocytes extend into the lymph node parenchyma. To learn more about the immunohistochemical profile of nodal nevi we examined 15 nodal nevi for the expression of S-100 protein, gp100 (HMB-45), Melan-A/MART-1 (A103), and tyrosinase (T311), and we studied the expression of Ki-67 (MIB-1) in nodal nevi and 40 melanoma metastases (35 lymph node and five cutaneous metastases). All nodal nevi were homogeneously immunoreactive for S-100 protein, tyrosinase, and Melan-A/MART-1. Two nodal nevi were focally positive for gp100. Fourteen of 15 nodal nevi were completely negative for Ki-67. One large cellular nodal nevus showed nuclear labeling in <0.2% of melanocytes. All metastases showed MIB-1 labeling. However, the percentage of labeled tumor cells varied widely, ranging from 2% to 80%. These results demonstrate that MIB-1 and HMB-45 are helpful reagents for the distinction of nodal nevi from melanoma. Immunohistochemistry for S-100 protein, Melan-A/MART-1, or tyrosinase facilitates the recognition of melanocytes but does not distinguish between nodal nevus and metastatic melanoma.

Adult↗
PubMed2004

Scalp lesions in Turner syndrome: a result of lymphoedema?

Lymphoedema and skin naevi are common in children with Turner syndrome (TS). Lymphoedema in the early stages of fetal life is thought to cause several of the phenotypic characteristics in patients with TS such as nuchal folds and pterygium colli. We present two patients with TS who have unusual lesions on the scalp. The first patient had an oval circumscribed lesion. Two biopsies were obtained from the lesion. Increased numbers of collagen fibres were seen in the reticular dermis suggesting the diagnosis of connective tissue naevus. The second patient presented with an area with skin folds on the scalp, similar to cutis verticis gyrata. Although unusual in TS, both lesions could be considered as resolving stages of lymphoedema. We suggest that karyotyping should be performed in cases of female infants presenting with similar lesions.

Child, Preschool↗
PubMed2000

A case of combined nevus: compound nevus and spindle cell Spitz nevus.

Combined nevi consisting of a Spitz nevus and an acquired nevus are unusual, and, to our knowledge, the combination of a spindle cell Spitz nevus and an overlying compound nevus has not been previously reported. We report a 17-year-old girl with a nodule on the left anterior lower extremity. The nodule was asymptomatic, firm, brown, symmetrical, dome-shaped, 8 mm in diameter, and not found with ulceration. Histological findings showed proliferation of spindle-shaped cells with an overlying compound nevus. The spindle-shaped cells were large, non-pigmented, uniform in size and shape, with rare mitoses and without nuclear atypia, and arranged in a storiform pattern in thick collagen bundles. They stained positively for S-100 and negatively for HMB-45. The lesion was considered to be a new type of combined nevus consisting of a spindle cell Spitz nevus and an overlying compound nevus.

Adolescent↗
PubMedDate not supplied

Hair follicle nevi and accessory tragi: variable quantity of adipose tissue in connective tissue framework.

Controversy exists about the histologic differences between hair follicle nevi and accessory tragi. We examined 10 congenital lesions histologically, possible diagnoses of which were hair follicle nevi or accessory tragi. Two specimens out of the 10 had tiny, mature hair follicles surrounded by thick fibrous root sheaths, a few fat cells, and no cartilage. The subcutaneous fat cells of their bases were segmented by a connective tissue framework. They had histologic features of hair follicle nevi. One specimen had cartilage and abundant fat cells with a connective tissue framework in the nodule, as well as a conglomeration of numerous well-differentiated hair follicles. It possessed both elements of a hair follicle nevus and an accessory tragus. Seven specimens had abundant subcutaneous fat and showed a prominent connective tissue framework. These were typical accessory tragi. The present study suggests that the number of fat cells in the nodule or papule differs between these two conditions. All the lesions studied revealed a connective tissue framework in the subcutaneous fat. Histologic features of both hair follicle nevi and accessory tragi can coexist in a single lesion. Hair follicle nevi may represent incomplete accessory tragi with scant fat cells.

Adipose Tissue↗