Transgrediens pachyonychia congenita (PC): case series of a nonclassical PC presentation.

BACKGROUND: Pachyonychia congenita (PC) is a rare keratin disorder that typically presents with nail dystrophy and focal plantar keratoderma. We present seven cases of PC with transgrediens involvement of the dorsal feet. OBJECTIVES: To document the extension of their disease to the dorsum of the feet in patients with mutation-confirmed PC, to report the natural history of PC with such transgrediens involvement, to generate hypotheses regarding aetiology, and to suggest prevention and treatment modalities. METHODS: Genetically confirmed cases of PC with transgrediens foot involvement were verified through the International Pachyonychia Congenita Research Registry (IPCRR) and characterized via telephone survey and photography. RESULTS: Seven patients with PC in the IPCRR were confirmed to have transgrediens lesions on the dorsal feet (six KRT6A mutations; one KRT16 mutation). Six cases had pre-existing nontransgrediens keratoderma and all cases reported standing, wearing shoes, foot moisture, and/or infection as exacerbating or predisposing factors. Improvement, reported in six cases, was attributed to use of antibiotics or gentian violet, or improved footwear. CONCLUSIONS: Transgrediens involvement of the dorsal feet is a rare manifestation of mutation-confirmed PC and may be more common in patients who carry a KRT6A mutation. Trauma, friction, infection and wound healing may exacerbate or predispose toward transgrediens lesions. It remains to be proven whether transgrediens-associated infection is causal or represents a primary or secondary process. Patients with PC who develop transgrediens lesions may benefit from fungal and bacterial cultures, followed by appropriate antimicrobial treatments. Efforts to decrease skin friction and moisture may also improve and/or prevent transgrediens spread.

Angiosarcoma-like presentation of pacemaker-related vascular proliferation.

A 90-year-old man presented with a rapidly growing vascular lesion after a pacemaker generator change. The rapid growth suggested a possible angiosarcoma. A less dramatic presentation of vascular proliferation has been described as reticular telangiectatic erythema, which has been reporting following insertion of pacemakers, implantable cardioverter defibrillators, and drug-delivery devices. The onset of the disorder is described as weeks to years after implantation or generator change. It is a benign condition that generally remains static or regresses over time. The vascular proliferation noted in this case resolved almost completely over a period of 1 year.

Keratolytic winter erythema with facial involvement: a novel presentation.

We present a 23-year-old woman with a diagnosis of keratolytic winter erythema (erythrokeratolysis hiemalis), who developed facial lesions following a traumatic experience. This rare genodermatosis usually affects the palms and soles, and appears as mild erythema and annular scaling. The limbs and trunk can rarely be affected. To our knowledge, this is the first reported case of facial involvement.

Major gene segregation of actinic prurigo among North American Indians in Saskatchewan.

Actinic prurigo is an idiopathic, familial photodermatosis seen especially in American Indians. Segregation analysis was performed on 12 Saskatchewan pedigrees with American Indian ancestry, comprising a total of 1,148 individuals, ascertained via probands diagnosed with actinic prurigo. Although a high degree of familial aggregation has been noted in the past and dominant inheritance has been suggested, no formal segregation analysis has been attempted. Actinic prurigo has a variable age of onset and, therefore, age at the time of censoring must be taken into account in the analysis. However, as these ages of 57% of the unaffected individuals were missing, an algorithm was devised to impute the missing ages from known birth years in the family based on the age differences among relatives and spouses. Using these imputed ages, simple dominant inheritance with incomplete penetrance and a single age of onset distribution was found. The method for imputing the ages at examination was evaluated, as was the correction for ascertainment, by using alternative methods and comparing the results. Regardless of the method used, a dominant mode of inheritance without any multifactorial component remained the best hypothesis.

A combination of abnormal immunoarchitecture and reproducible clonal bands identifies the biologic nature of cutaneous B-cell infiltrates.

In the multiparametric evaluation of cutaneous B-cell infiltrates (CBIs), immunoarchitectural features have been underused, and B-cell clonality alone has limited clinical usefulness. Our aim was to assess the usefulness of immunoarchitectural abnormalities (IAs) and clonality in the diagnosis of CBIs. On 39 CBIs, immunohistochemistry was performed using anti-CD45, anti-CD45RO, anti-CD3, anti-CD20, anti-CD21, and anti-CD35, and polymerase chain reaction was used to detect immunoglobulin heavy chain rearrangement. There were 33 cutaneous lymphoid hyperplasias (CLHs) and 6 cutaneous B-cell lymphomas. IAs were present in 9 lesions and clonal bands in 14 lesions. In 6 cutaneous B-cell lymphomas, IAs were associated with pure and reproducible clonal bands. IAs in 3 CLH lesions with a superficial infiltrate were not associated with clonal bands. Clonal bands in 8 CLH lesions without IAs were not reproducible from deeper sections; furthermore, in 5 of 8 cases, these were present against a background smear. A combination of IAs and clonality is a useful adjunct in the diagnosis of CBIs.

Clinicopathologic, immunophenotypic, and molecular characterization of primary cutaneous follicular B-cell lymphoma.

OBJECTIVE: To determine the clinicopathologic, immunophenotypic, and molecular characteristics of primary follicular cutaneous B-cell lymphoma (CBCL) as defined by the revised European-American lymphoma classification. DESIGN: A retrospective survey of the medical records, an immunohistochemical study of archival biopsy specimens. and molecular studies of preserved DNA of all patients with follicle center lymphoma-follicular (FCL-F) primary CBCL from 1987 to 1997. SETTING: A single-center outpatient specialty clinic at an academic medical center. PATIENTS: Twenty-one patients (68% of all new primary CBCL cases), including 14 men and 7 women (age range, 33-88 years; mean, 55 years). RESULTS: The head and neck region was the most frequent primary site. Following treatment, recurrences were relatively frequent, but the overall mortality rate during 1.0 to 11.3 years (mean, 6.3 years) of follow-up was 4.8%. Immunohistochemical analysis for B- and T-cell lineages was helpful in enhancing the folliclelike structures. CD10, bcl-2, and CD43 were expressed by the neoplastic cells in 9 (47%) of 19 cases, 4 (21%) of 19 cases, and 2 (13%) of 16 cases, respectively. Immunohistochemical detection of cytoplasmic immunoglobulin light chains, using steaming in EDTA as the antigen-retrieval technique, was successful in 12 (71%) of 17 cases. The Ig heavy-chain gene rearrangements, using the Southern blot technique, detected clonality in 17 (94%) of 18 cases. The bcl-2 gene rearrangements were detected in only 2 (13%) of 15 of the primary cutaneous FCL-F cases, compared with 9 (75%) of 12 of the primary nodal FCL-F cases (P =.002). CONCLUSIONS: Primary cutaneous FCL-F is a relatively common subtype of CBCL, with a relatively indolent course. It has many features in common with primary nodal FCL-F, except for low rates of bcl-2 expression and bcl-2 gene rearrangements.

Screening of depigmenting compounds for the development of an alternate method of branding beef cattle.

The impetus to find alternative methods to stressful routine management procedures has increased in recent years in the hope of improving animal welfare. The potential of using depigmenting compounds to create a permanent visible mark was evaluated in two beef heifers. Eight compounds (hydroquinone [H], 4-ethoxyphenol [4-EP], 4-methylcatechol [4-MC], 4-tert-butylcatechol [4-t-BC], 4-methoxyphenol [4-MP], monobenzone [M], hydroquinone bis (2-hydroxyethyl) ether (HHEE), and catechol [C]) were injected intradermally at concentrations of 10 and 20%. These compounds were screened in four different carriers (ethanol, glycerol, propylene glycol, and liposome cream) to test their effectiveness in producing depigmented hair. Transdermal patches containing 5, 7, and 10% liposome preparations of 4-MC and 4-MP produced depigmentation, but this depigmentation was not as visible as when the same preparations were injected. Histological examination of biopsies and observations of the injected sites were compared to sites that were only injected with the carrier solution. Compounds H, 4-EP, 4-MC, 4-t-BC, 4-MP, and M produced visible depigmentation lasting up to 3 mo. The duration of the effect seemed dependent on the hair cycle length and stage of cycle at time of application. None of the depigmenting compounds tested produced a permanent depigmenting effect.

Onychomycosis--treatment, relapse and re-infection.

The treatment of onychomycosis has improved considerably following the introduction of the oral antifungals terbinafine and itraconazole. The pharmacokinetic characteristics of both these drugs has made short treatment times effective. Patients with a culture-proven dermatophyte infection of the toe-nails, receiving terbinafine 250 mg daily for 12 weeks, have a 70% chance of cure. The risk of relapse is probably less than 10%, and this may be prevented by a further course of terbinafine should the expected increasing length of unaffected nail growth stall or cultures become positive. Once cured, the regular and prophylactic use of an effective topical antifungal may help to prevent a recurrence of tinea pedis and onychomycosis.

Systemic histoplasmosis with oesophageal obstruction due to Histoplasma granulomas. Successful treatment with rifampicin and amphotericin B.

A patient with oesophageal stenosis caused by Histoplasma granulomas is reported. He was treated with an initial combined course of intravenous amphotericin B and oral rifampicin. Complications included adrenal insufficiency, operative perforation of the oesophagus, amphotericin nephrotoxicity and tuberculosis. The histoplasmosis has not recurred for over 3 years.

Prevalence, epidemiology and geographical distribution of Sporothrix schenckii infections in Gauteng, South Africa.

Sporotrichosis is a subcutaneous fungal infection caused by the traumatic implantation of the dimorphic, pathogenic fungus, Sporothrix schenkii. It constitutes the most common subcutaneous fungal infection in the general population in South Africa. Sporotrichosis in South Africa dates back to 1914, when the disease was first diagnosed in the gold mines. Occupational and recreational circumstances of infection are well established, and the environmental requirements for contracting the disease are better understood. Sporotrichosis cases were recorded from 42 suburbs in the greater Pretoria area as well as from 23 towns outside the Pretoria municipal boundary. It occurred in 154 patients with ages ranging from less than 1 year to 90 years old, with males predominating. Females in the area seemed to be at lesser risk, mainly becoming infected through gardening injuries, insect bites or other minor injuries due to outdoor activities. Exposure to possible sources of the fungus, either from recreational or occupational activities in males, was the main determining factor in acquiring the disease. The lymphocutaneous and localized forms of the disease were most often recorded. Our study indicates that, while there is no pronounced seasonal variation, the onset of the disease seemed to be mainly in the cooler and dryer months of the year.

Treatment of cutaneous sporotrichosis with terbinafine.

Terbinafine, an allylamine antifungal agent, has been shown to have excellent in-vitro activity against dermatophytes. Several other fungi of importance also show in-vitro sensitivity. Because terbinafine is fungicidal rather than fungistatic in action, its efficacy in treating such fungal infections requires evaluation. Five patients with cutaneous sporotrichosis were treated with 250 mg of terbinafine twice daily. All of the patients were cured. Overall, the clinical response was rapid. In three patients, negative culture was achieved within 8 weeks; in the other two, negative culture was obtained at 12 and 32 weeks, respectively. Terbinafine was well tolerated, although one patient developed erectile dysfunction while receiving treatment. This was completely resolved on stopping the treatment. The treatment of sporotrichosis is also reviewed in this article.

Mycosis fungoides and chronic lymphocytic leukaemia--composite T-cell and B-cell lymphomas presenting in the skin.

Composite lymphomas involving cutaneous B-cell and T-cell lymphomas are very uncommon. We report here the unique circumstance of a patient with mycosis fungoides (primary cutaneous T-cell lymphoma) who later developed chronic lymphocytic leukaemia (B-cell lymphoproliferation, B-CLL), which presented in the skin (leukaemia cutis) as a composite lymphoma affecting an earlobe. The presence of both lymphoproliferative disorders was confirmed with immunophenotyping and the finding of both immunoglobulin gene rearrangements and T-cell receptor gene rearrangements in the ear and the same T-cell receptor gene rearrangement in a plaque lesion of mycosis fungoides on the arm.

Peri-umbilical cutaneous schistosomiasis: A case report.

A case of peri-umbilical cutaneous schistosomiasis is described. The patient exhibited the typical clinical features. Diagnosis as confirmed by simple examination of the skin scrapings.

Actinic chickenpox. Light-distributed varicella eruption.

When areas of the skin which are normally covered become sunburnt just before chickenpox eruption, there occurs a marked intensification of the rash on the freshly burnt parts. This phenomenon is not widely known. Its history, published reports and our original observations on this 'actinic' chickenpox are presented, with comment on its pathogenesis.

Erythema elevatum diutinum, cryoglobulinaemia, and fixed urticaria on cooling.

A mixed cryoglobulin (IgG/IgM) was detected in a patient with erythema elevatum diutinum. Cold exposure activated the complement system and provoked a fixed urticarial reaction with the histology of a leukocytoclastic vasculitis.

Topical nitrofurazone, a potent sensitizer of the skin and mucosae.

Although freely available, topical nitrofurazone (Furacin) frequently causes severe contact dermatitis, necessitating hospitalization. Six patients with sensitivity reactions to topical nitrofurazone are described. Our experience suggests that the free availability of this drug may increase the incidence of reactions due to its use, and should be condemned.

Mycosis fungoides and cutaneous Hodgkin's disease in the same patient: a case report.

We describe a case of a 34-year-old man who presented with a 10-year history of mycosis fungoides and recent onset of inguinal lymphadenopathy, fever, and cutaneous nodules on the right hip. Biopsy of the inguinal lymph node showed mixed cellularity Hodgkin's lymphoma. Biopsy of the pre-existing skin lesions showed mycosis fungoides, while that of the nodules on the hip revealed cutaneous Hodgkin's lymphoma. Immunohistochemical and molecular analysis demonstrated a null phenotype in the Reed-Sternberg cells of the Hodgkin's disease lesions, and a T-cell phenotype in the lymphoid cells of the mycosis fungoides lesions. He was treated with chemotherapy for Hodgkin's disease, which is in remission 11 years later. Topical nitrogen mustard and maintenance PUVA therapy have been used for the mycosis fungoides, which is also in remission.

Histopathology of actinic prurigo.

Actinic prurigo (AP) is an idiopathic familial photodermatosis seen in American Indians. We report on 17 patients; 16 had dermatitis and one had actinic cheilitis. Ten patients had acute dermatitis and six had chronic dermatitis. The histologies of acute AP and polymorphous light eruption (PLE; limited concept) are eczematous and indistinguishable. Both show spongiosis, superficial (and sometimes deep) perivascular lymphocytic infiltrates, and papillary dermal edema. Both also show vacuolar degeneration of the basal layer. In contrast, the chronic lichenified AP lesions are associated with marked hyperkeratosis, acanthosis, elongation of the rete ridges, and tissue repair. The large lymphoid germinal centers in the lamina propria are the main features of the lip histology. Seven biopsies were positive in the basal membrane zone on direct immunofluorescent testing, four were negative, and one was inconclusive. IgM was present in six and C3 in two. These immunofluorescent results are probably not significant. Immunofluorescent testing of the lip was negative. Although it is not possible to distinguish acute AP from PLE histologically, it is possible to differentiate the two conditions when chronic AP changes are present.