Benign cylindroma causing transcalvarial invasion in a patient with familial cylindromatosis.

OBJECTIVE: To describe a case of scalp cylindroma without features of malignancy invading through the skull and dura, and producing massive intracranial extension. Tumors of epidermis and epidermal appendages rarely show bony invasion, but invasive tendency in some tumor types has been associated with increased TP53 expression. PATIENT AND METHODS: Patient with familial cyindromatosis (Brooke-Spiegler syndrome) who had undergone numerous previous surgical excisions over the past 30 years of his scalp cylindromas. Light microscopic and immunohistochemical characterization of resected tumor, with TP53 immunostaining in the invasive tumor was compared with that seen in five other cutaneous, non-invasive cylindromas. RESULTS: Tumor showed no increase in mitotic rate or increased immunostaining for TP53. CONCLUSION: Multiple previous surgeries down to pericranium may have contributed to local weakening of tissues and facilitated transcalvarial invasion. While an uncommon occurrence, both benign and malignant cylindromas have the capacity to invade bone, particularly in patients with the familial syndrome.

Clinical, histologic, and immunofluorescent distinctions between subacute cutaneous lupus erythematosus and discoid lupus erythematosus.

Subacute cutaneous lupus erythematosus (SCLE) was originally described and distinguished from discoid lupus erythematosus (DLE) on the basis of clinical examination of the skin, but subsequent reports have questioned the concept of SCLE as a marker of a unique subset of LE patients. We classified 27 lupus patients, on the basis of cutaneous exam, as having discoid lupus skin lesions, subacute cutaneous skin lesions, or systemic lupus erythematosus (SLE) without DLE or SCLE lesions. Clinical features most characteristic of SCLE rather than DLE were superficial, non-indurated, non-scarring lesions, and photosensitivity, with lack of induration being the single most helpful finding. Histologic examination of lesional skin showed a relatively sparse, superficial infiltrate in SCLE and a denser, deeper infiltrate in DLE. A distinctive pattern of staining with direct immunofluorescence, particulate epidermal IgG deposition, was found in seven of seven SCLE patients (all anti-Ro/SSA positive) and none of the other patients. This distinctive pattern can be reproduced experimentally when anti-Ro/SSA autoantibodies are infused into human skin-grafted mice. Particulate dermal-epidermal junctional staining was the pattern seen in the patients who did not have SCLE. Clinically defining SCLE as a superficial inflammatory form of cutaneous lupus (i.e., considering lesions to be DLE if they are indurated) results in a meaningful segregation of SCLE and DLE patient groups. The epidermal IgG deposits unique to SCLE provide independent evidence that the clinical findings that were used to identify the patient groups actually identify distinctive cutaneous lupus subsets. The observation that antibodies are present in a different location in the skin in SCLE than in DLE indicates that SCLE and DLE are likely to have different pathomechanisms.

Ras mutations in human melanoma: a marker of malignant progression.

In this study we address whether there is an association between ras mutations and disease progression in malignant melanoma. DNA was extracted from 100 paraffin-embedded melanomas and sequences around the 12th, 13th and 61st codons of N-, H-, and K-ras were amplified using the polymerase chain reaction and probed for single base pair mutations using synthetic oligonucleotide probes. Thirty-six melanomas contained mutations, which in 25 cases (69%) occurred at the 61st codon of N-ras. The results from dot blot hybridizations were confirmed by subcloning and sequencing the polymerase chain reaction products from two tumors. No ras mutations were found in Clark's level I melanomas, whereas 19% of level II and 45% of the more advanced primary tumors contained ras mutations (Chi squared test: p < 0.05). The median Breslow thickness of primary melanomas with ras mutations was 0.72 mm, significantly thicker than the 0.42 mm of melanomas without mutations (Mann-Whitney U test, p = 0.042). Ras mutations were found more frequently in primary tumors from continuously exposed skin (56%) than tumors from intermittently or non-sun exposed sites (21%). Fifty percent of locally recurrent and 47% of metastatic melanomas had ras mutations. We conclude that ras mutations occur in a subset of melanomas from sun-exposed skin as a feature of tumor progression.

Ciliated plantar cyst.

A 33-year-old woman had a solitary cyst of the right sole. The cyst was lined by ciliated columnar epithelium that varied in thickness from a single layer to pseudostratified layers. We suggest that the cyst may represent a developmental anomaly that resulted in the abnormal localization of cells with the potential for ciliogenesis.

Inflammatory linear verrucous epidermal nevus. Association with epidermal nevus syndrome.

A female infant was noted at birth to have severe skeletal anomalies of the right upper and lowere extremities. These anomalies were associated with an inflammatory linear verrucous epidermal nevus (ILVEN). Like the noninflammatory type of epidermal nevus, ILVEN may be a component of the epidermal nevus syndrome.

Scrotal calcinosis. Dystrophic calcification of epidermoid cysts.

Scrotal calcinosis, consisting of solitary or multiple circumscribed deposits of calcium within the dermis of the scrotum, has generally been assumed to be idiopathic. We have recently examined three patients in whom scrotal epidermoid cysts in varying stages of inflammation coexisted with scrotal calcinosis. Some cysts showed calcification of their keratin contents with little evidence of active inflammation. Other cysts showed rupture of their epithelial walls associated with the presence of keratin fibers, granulomatous inflammation, and calcium granules in the surrounding dermis. It seems that so-called idiopathic scrotal calcinosis may represent the end stage of dystrophic calcification associated with the inflammation of scrotal epidermoid cysts.

Erythropoietic protoporphyria with hepatic cirrhosis.

Cholestatic jaundice and rapidly deteriorating hepatic function developed in a 19-year-old man with a lifelong history of photosensitivity. Laboratory studies revealed the characteristic increased erythrocyte and fecal protoporphyrin levels of erythropoietic protoporphyria. Progressive hepatic failure was treated by orthotopic liver transplantation six months after the first clinical indication of hepatic dysfunction. Characteristic light microscopic, fluorescence microscopic, and electron microscopic findings of erythropoietic protoporphyria were present in skin and liver. Four weeks after liver transplantation, the patient died of disseminated candidiasis. At autopsy, the donor liver had no microscopic evidence of protoporphyrin accumulation, although tissue protoporphyrin levels were mildly elevated.

Erosive adenomatosis of the nipple.

Erosive adenomatosis of the nipple is a rare, usually benign neoplasm of the major nipple ducts. Although morphologic features may distinguish it from Paget disease, histopathological differentiation is simple. Recognition of this tumor may spare needless mastectomy.

Cutaneous macroglobulinosis. A case report with unique ultrastructural findings.

BACKGROUND: Cutaneous macroglobulinosis is a rare cutaneous manifestation of Waldenström's macroglobulinemia. Lesions result from the direct deposition of macroglobulin in the skin and have been called IgM storage papules. A case of cutaneous macroglobulinosis with unique ultrastructural findings was studied. OBSERVATIONS: Cutaneous macroglobulinosis is characterized by multiple flesh-colored papules on extensor skin surfaces. Histologically, there are dermal collections of eosinophilic hyaline material, simulating amyloid. The material is positive on periodic acid-Schiff staining. Amyloid stains are negative or equivocal. Electron microscopy reveals thick, nonbranching, 56-nm-wide, linear material with cross striations at 12-nm intervals. These ultrastructural findings differ from the three previously reported cases. CONCLUSIONS: Cutaneous macroglobulinosis may be a rare presenting sign of Waldenström's macroglobulinemia. Deposits of macroglobulin in the skin result in a histologic picture that greatly resembles amyloid. Histochemical stains, direct immunofluorescence microscopy, and electron microscopy are useful tools that enable accurate diagnosis and help to distinguish cutaneous macroglobulinosis from other deposition disorders.

Nevoid basal cell carcinoma syndrome. Multiple basal cell carcinomas of the palms after radiation therapy.

A patient with the nevoid basal cell carcinoma syndrome had been treated with radiation therapy to the hands at 5 years of age. Multiple basal cell carcinomas of the palms and dorsa of the hands developed when the patient was 28 years of age. It is proposed that the radiation therapy induced tumors in palmar pits that seem to represent a forme fruste of basal cell carcinoma. Radiation therapy should be avoided in individuals with the nevoid basal cell carcinoma syndrome.

Median raphe cysts of the penis.

The occurrence of a ventral cystic lesion of the penis should alert the clinician to the diagnosis of a median raphe cyst. The lesions, which are most common near the glans penis, may occur anywhere from the urethral meatus to the anus. Cysts of the median raphe represent defects in the embryologic development of the genitalia and are usually lined by entodermal epithelium. Surgical excision is the treatment of choice.

Defective monocyte chemotaxis in mycosis fungoides.

Monocyte-macrophage function was studied in 14 patients with histologically confirmed mycosis fungoides. Three component parts of the monocyte-macrophage system were examined. Monocyte bacterial phagocytosis and bacterial killing were normal. However, a defect in directional mobility (chemotaxis) was found in patients with mycosis fungiodes (P less than .0025) when compared to 35 healthy controls. Defective chemotaxis was present regardless of disease stage or therapy. This defect in monocyte chemotaxis represents a previously unrecognized immune deficiency and may help explain the frequent infections found in patients with mycosis fungoides.

Primary noncutaneous melanoma.

Primary noncutaneous melanomas are rare neoplasms that affect patients in an older age group than primary cutaneous melanomas. The prognosis is worse than primary cutaneous melanomas because of the advanced stage at the time of diagnosis, the rich vascular and lymphatic supply of mucosal sites, and the lack of clinical suspicion of the tumor because of its rarity. The initial treatment is surgical resection but the location may make it technically difficult to obtain complete tumor removal. Unlike cutaneous melanoma, sun exposure is not a risk factor for noncutaneous melanomas. Darker-skinned individuals may have a higher incidence of some noncutaneous melanomas, such as anorectal melanomas. It is important for clinicians and pathologists to recognize primary noncutaneous melanomas to provide early detection and optimum management.

Hamartomas.

Hamartomas of the skin are tumor-like malformations of mature or nearly mature structures that are part of the normal structure of skin. The onset is usually at birth; however, it may be delayed until childhood or early adulthood. Hamartomas may occur on any part of the body and are sometimes linear and unilateral. Histologically, they may show an alteration of a single cell line or of multiple related cell lines. Some types of the hamartomas may be markers for underlying internal organ abnormalties, such as the epidermal nevus syndrome, the nevus comedonicus syndrome, or the organoid nevus syndrome. Some may be prone to develop various secondary benign or malignant tumors as in an organoid nevus. Hamartomas may occur as solitary, sporadic lesions unrelated to other conditions or as multiple lesions that are inherited as an autosomal trait. The latter are often associated with systemic abnormalites. Hamartomas such as Becker's pigmented hairy nevus appear to be inherited as an autosomal dominant trait, but the late onset and variable expression may be under hormonal influence. So far only tuberous sclerosis has been shown to be related to a specific chromosomal abnormality, mutant gene located on the long arm of chromosome 9.

Comparison of in vivo and in vitro measures of beryllium sensitization.

Chronic beryllium disease (CBD) diagnosis hinges on demonstrating a cell-mediated immune response to beryllium salts in vitro with the beryllium lymphocyte proliferation test (BeLPT). The BeLPT has found widespread application in screening for CBD and beryllium sensitization in populations of exposed workers. We hypothesized that the in vivo beryllium salt patch test may be of value as an adjunct to the BeLPT, rectifying false negative or ambiguous blood test results. We studied subjects with CBD (n = 11), beryllium sensitization without disease (n = 3), and control subjects with dermatitis (n = 20). Evaluation included completion of a demographic questionnaire, blood BeLPT (if CBD or beryllium-sensitized), and beryllium patch testing with 0.1% and 1% beryllium sulfate (BeSO4) in petrolatum and in aqueous vehicles. Biopsies were performed at abnormal patch test sites in five subjects. The 1% aqueous BeSO4 proved superior either to 1% petrolatum or 0.1% solutions, producing positive reactions in all CBD and beryllium-sensitized subjects. We observed no long-term adverse reactions. Biopsies demonstrated spongiotic changes early, followed by noncaseating granulomas within 18 days. We conclude that the beryllium patch test can be used safely to clarify the sensitization state and diagnosis of CBD.

The vasculitides and their significance in the pediatric age group.

The vasculitides in infants and children may involve small or large cutaneous vessels and may affect a variety of internal organs. With the exception of Henoch-Schönlein purpura, vasculitis is rare in the pediatric age group. Progress has been made in determining the pathogenesis of childhood vasculitis, and there has been a significant improvement in therapy.

Eosinophilic and neutrophilic spongiosis: clues to the diagnosis of immunobullous diseases and other inflammatory disorders.

When eosinophils or neutrophils are found within the epidermis in concert with edema, the pattern is known as eosinophilic or neutrophilic spongiosis. Although eosinophilic spongiosis has been accepted as a clue to the diagnosis of blistering disorders for some time, the fact that either pattern can serve as a clue to the diagnosis of a variety of disorders, including immunobullous diseases, is less widely known. Herein, we review the types of inflammatory skin diseases, including spongiotic dermatitides, subepidermal vesicular dermatitides, intraepidermal vesicular dermatitides, and perivascular or diffuse dermatitides, that display intraepidermal eosinophils and neutrophils. We also review the known mechanisms that explain in part why intraepidermal granulocytes are commonly found in this diverse group of skin diseases.

Median raphe canals of the penis.

Developmental abnormalities of the male genitalia can result in epithelial-lined canals or cysts which occur along the ventral median raphe from the glans penis to the anus. Although usually asymptomatic, secondary infection may produce swelling, tenderness and a purulent discharge. The canals are lined by stratified squamous epithelium which does not communicate with the urethra. Surgical excision is the treatment of choice.