Neutrophilic dermatosis: a new skin manifestation and novel pathogenic variant in a rare autoinflammatory disease.

Sideroblastic anaemia, B-cell immunodeficiency, periodic fever and developmental delay (SIFD) is caused by mutations of TRNT1, an enzyme essential for mitochondrial protein synthesis, and has been reported in 23 cases. A 6-month-old girl was evaluated with recurrent fever, failure to thrive, skin lesions and anaemia. She received blood transfusions and empirical antibiotics. Skin lesions, previously interpreted as insect bites, consisted of numerous firm asymptomatic erythematous papules and nodules, distributed over trunk and limbs. Skin histopathology revealed an intense dermal neutrophilic infiltrate extending to the subcutaneous, with numerous atypical myeloid cells, requiring the diagnosis of leukaemia cutis, to be ruled out. Over the follow-up, she developed herpetic stomatitis, tonsillitis, lobar pneumonia and Metapneumovirus tracheitis, and also deeper skin lesions, resembling panniculitis. Hypogammaglobulinaemia was diagnosed. An autoinflammatory disease was confirmed by whole exome sequencing: heterozygous mutations for TRNT1 NM_182916 c.495_498del, p.F167Tfs * 9 and TRNT1 NM_182916 c.1246A>G, p.K416E. The patient has been treated with subcutaneous immunoglobulin and etanercept. She presented with developmental delay and short stature for age. The fever, anaemia, skin neutrophilic infiltration and the inflammatory parameters improved. We describe a novel mutation in SIFD and the first to present skin manifestations, namely neutrophilic dermal and hypodermal infiltration.

Cutaneous idiopathic hyperchromia of the orbital region (CIHOR): a histopathological study.

BACKGROUND: Dark circles under or around the eyes is a cosmetic problem for a large number of people. It is a condition of unknown etiology characterized by the darkening of the eyelids and periorbital skin. The aim of this study was to determine histopathological changes associated with cutaneous idiopathic hyperchromia of the orbital region (CIHOR). METHODS: Twenty-eight adult patients with CIHOR were consecutively selected for the study. Biopsy specimens were taken from the darkened skin of the eyelid and from the normal retroauricular skin as a control. RESULTS: Hemosiderin was absent in all cases. The increase in melanin content in the papillary dermis was slight in mild clinical cases and moderate in both the moderate and severe clinical cases of CIHOR. Mild dilation of blood vessels was observed in the papillary dermis at the different clinical levels of CIHOR severity, while in the reticular dermis, blood vessels showed moderate dilation and few melanophages were found. CONCLUSION: An increase in melanin content was the most marked histological change in specimens of darkened skin. Dilation of dermal blood vessels may contribute to the severity of CIHOR. Hemosiderin was not observed in any case. LEVEL OF EVIDENCE III: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

Efficacy and Safety of Scalp Microneedling in Male Pattern Hair Loss.

Introduction: There are few reports involving scalp microneedling in MPHL patients, and in most of them, physical stimulus is associated with other therapeutic agents. The aim of this study was to evaluate the efficacy and risks of isolated scalp microneedling in MPHL patients. Methods: Thirty patients were included in this randomized single-blinded study and submitted to 4 monthly scalp microneedling sessions. Two different microneedling devices were used: roller (n = 15) and tattoo cartridge (n = 15). Scalp coverage and hair density changes were measured 4 and 16 weeks after the last session. Adverse events were observed throughout the study, and scalp biopsies were performed before and after to investigate scarring changes. Results: Four of 12 participants in the roller group and 2 of 14 participants in the tattoo cartridge group showed an improvement in clinical pictures at the first follow-up visit. Only half of these patients sustained an improvement until the last follow-up visit. No benefit in hair density was observed in either group. No reports of adverse events were made. Neocollagenesis and elastolysis were noted in scalp biopsies. Discussion/Conclusion: Isolated scalp microneedling did not show improvement in scalp coverage or hair density of MPHL participants in this study.

Pruritic papular eruption and eosinophilic folliculitis associated with human immunodeficiency virus (HIV) infection: a histopathological and immunohistochemical comparative study.

BACKGROUND: Among the papular-pruriginous dermatoses related to human immunodeficiency (HIV) infection, two entities remain poorly differentiated leading to confusion in their diagnosis: HIV-related pruritic papular eruption (HIV-PPE or prurigo) and eosinophilic folliculitis (HIV-EF). OBJECTIVE: To establish histopathological and immunohistochemical parameters to differentiate between two conditions associated with HIV infection, the pruritic papular eruption (HIV-PPE) and eosinophilic folliculitis (HIV-EF). METHODS: Clinically typical HIV-PPE (18 cases) and HIV-EF (10 cases) cases were compared with each other in terms of the following topics: clinical and laboratory features (gender, age, CD4+ cell and eosinophil count), histopathological features (hematoxylin-eosin and toluidine blue staining) and immunohistochemical features (anti-CD1a, anti-CD4, anti-CD7, anti-CD8, anti-CD15, anti-CD20, anti-CD30, anti-CD68/macrophage and anti-S-100 reactions). RESULTS: Among the HIV-EF patients, we found an intense perivascular and diffuse inflammatory infiltration compared with those patients with HIV-PPE. The tissue mast cell count by toluidine staining was higher in the HIV-EF patients, who also presented higher expression levels of CD15 (for eosinophils), CD4 (T helper), and CD7 (pan-T lymphocytes) than the HIV-PPE patients. LIMITATIONS: Only quantitative differences and not qualitative differences were found. CONCLUSIONS: These data indicate that HIV-related PPE and EF could possibly be differentiated by histopathological and immunohistochemical findings in addition to clinical characteristics. In fact, these two inflammatory manifestations could be within the spectrum of the same disease because only quantitative, and not qualitative, differences were found.

Patterns of nail matrix and bed of longitudinal melanonychia by intraoperative dermatoscopy.

BACKGROUND: The dermatoscopic examination of the nail plate has been recently introduced for the evaluation of pigmented nail lesions. There is, however, no evidence that this technique improves diagnostic accuracy of in situ melanoma. OBJECTIVE: To establish and validate patterns for intraoperative dermatoscopy of the nail matrix. METHODS: Intraoperative nail matrix dermatoscopy was performed in 100 consecutive bands of longitudinal melanonychia that were excised and submitted to histopathologic examination. RESULTS: We identified 4 dermatoscopic patterns: regular gray pattern (hypermelanosis), regular brown pattern (benign melanocytic hyperplasia), regular brown pattern with globules or blotch (melanocytic nevi), and irregular pattern (melanoma). LIMITATIONS: Nail matrix dermatoscopy is an invasive procedure that can not routinely be performed in all cases of melanonychia. CONCLUSION: The patterns described present high sensitivity and specificity for intraoperative differential diagnosis of pigmented nail lesions.

Histopathological Findings of Uncomplicated Hair Transplant for Male Androgenetic Alopecia: Can Lichen Planopilaris Features Be Present?

INTRODUCTION: Insufficient hair growth after hair transplant, as well as erythema and perifollicular scaling, may be diagnosed as lichen planopilaris and treated as such based on clinical and histopathological findings. The purpose of this study is to observe graft biopsies of patients after uncomplicated hair transplants and to discuss if histological findings are enough to diagnose lichen planopilaris. METHODS AND RESULTS: Eight patients diagnosed with androgenetic alopecia who were submitted to hair transplant were enrolled. In each of the participants, a scalp biopsy was performed in the receptor area and in the adjacent area. Biopsies were performed between 6 months and 1 year after surgery. Exams were analyzed by 3 pathologists. The t test was performed for paired observations, comparing the transplanted and the nontransplanted area for lymphocytic infiltrate and fibrosis. The significance level was considered as 5% (p < 0.05). Four of 8 participants had perifollicular lymphocytic infiltrate, from moderate to dense intensity in the recipient area. Fibrosis was seen in 6 patients. These findings were not seen in the control area. CONCLUSIONS: It is questioned whether lymphocytic infiltrate and fibrosis may be expected in patients who are submitted to normal hair transplants.

Study of tissue inflammatory response in different mice strains infected by dematiaceous fungi Fonsecaea pedrosoi.

BACKGROUND: Diseases caused by melanized fungi include mycetoma, chromoblastomycosis and phaeohyphomycosis. This broad clinical spectrum depends on the dynamic interactions between etiologic agent and host. The immune status of the host influences on the development of the disease, as, an exemple. phaeohyphomicosis is more frequently observed in immunocompromised patients. OBJECTIVES: Examine the histological inflammatory response induced by Fonsecaea pedrosoi in several different strains of mice (BALB/c, C57BL/6, Nude and SCID, and reconstituted Nude). METHODS: Fonsecaea pedrosoi was cultivated on agar gel and a fragment of this gel was implanted subcutaneously in the abdominal region of female adult mice. After infection has been obtained, tissue fragment was studied histopathologically. RESULTS: There were significant changes across the strains, with the nodular lesion more persistent in Nude and SCID mice, whereas in immunocompetent mice the lesion progressed to ulceration and healing. The histopathological analysis showed a significant acute inflammatory reaction which consisted mainly of neutrophils in the initial phase that was subsequently followed by a tuberculoid type granuloma in immunocompetent mice. STUDY LIMITATIONS: There is no a suitable animal model for chromoblastomycosis. CONCLUSIONS: The neutrophilic infiltration had an important role in the containment of infection to prevent fungal spreading, including in immunodeficient mice. The fungal elimination was dependent on T lymphocytes. The re-exposure of C57BL/6 mice to Fonsecaea pedrosoi caused a delay in resolving the infection, and appearance of muriform cells, which may indicate that re-exposure to fungi, might lead to chronicity of infection.

Paraneoplastic pemphigus associated with non-Hodgkin lymphoma.

We report a case of a 55-year-old man who, after a 6-month history of enlargement of cervical lymph nodes, presented with multiple painful ulcerations of the oral mucosa and lips and multiple skin erosions on the trunk, back, extremities, and genitals. A lymph node biopsy was performed and revealed diffuse peripheral B-cell non-Hodgkin lymphoma. Skin biopsy revealed an acantholytic blister in the epidermis. Direct immunofluorescence showed IgG deposition in the intercellular spaces of the epidermis and linear C3 deposition in the basement-membrane zone. The indirect immunofluorescence test on rat urinary bladder epithelium was positive with a 1:320 titre. Paraneoplastic pemphigus was diagnosed based on these findings; treatment was started with cyclophosphamide, doxorubicin, vincristin and prednisone. The patient's response to treatment was poor and he developed several complications and died 2 months after diagnosis.

The oral mucosa in leprosy: a clinical and histopathological study.

INTRODUCTION: Multibacillary leprosy may involve the oral mucosa, with or without apparent lesions. There are few studies that deal with this issue in the era of multidrug therapy. AIM: To assess the frequency of oral mucosa involvement in multibacillary leprosy patients. PATIENTS AND METHODS: A transversal study with twenty non-treated multibacillary leprosy patients. The patients were treated in Dracena, São Paulo, between 2000 and 2002. Clinical examination of the oral mucosa was carried out. All patients were submitted to jugal mucosa, soft palate and tongue biopsies, in altered or in pre-established sites. The cross-sections were stained by techniques of hematoxilin-eosin and Ziehl-Neelsen. Granuloma and alcohol-acid-resistant bacilli findings determined the specific histopathological involvement. RESULTS: The study involved 19 patients with an average of 2.5 years of disease progression. Specific histopathological involvement occurred in the tongue and soft palate of one lepromatous patient with an apparently normal oral mucosa. CONCLUSIONS: (1) Clinical alterations in the oral mucosa does not imply disease involvement, it is necessary to have histopathological confirmation. (2) Apparent specific clinical alterations are rare. (3) The clinically normal oral mucosa can show specific histopathological involvement.

Dysplastic nevus associated with seborrheic keratosis.

Seborrheic keratosis is a common skin lesion which may coincidentally be associated melanocytic nevi. The authors describe a case of dysplastic nevus associated with seborrheic keratosis and discuss the clinical, dermoscopic, and histological findings of this association. They also discuss the association between seborrheic keratosis and other benign and malignant tumours.

Study of tissue inflammatory response in different mice strains infected by dematiaceous fungi Fonsecaea pedrosoi

Abstract: Background: Diseases caused by melanized fungi include mycetoma, chromoblastomycosis and phaeohyphomycosis. This broad clinical spectrum depends on the dynamic interactions between etiologic agent and host. The immune status of the host influences on the development of the disease, as, an exemple. phaeohyphomicosis is more frequently observed in immunocompromised patients. Objectives: Examine the histological inflammatory response induced by Fonsecaea pedrosoi in several different strains of mice (BALB/c, C57BL/6, Nude and SCID, and reconstituted Nude). Methods: Fonsecaea pedrosoi was cultivated on agar gel and a fragment of this gel was implanted subcutaneously in the abdominal region of female adult mice. After infection has been obtained, tissue fragment was studied histopathologically. Results: There were significant changes across the strains, with the nodular lesion more persistent in Nude and SCID mice, whereas in immunocompetent mice the lesion progressed to ulceration and healing. The histopathological analysis showed a significant acute inflammatory reaction which consisted mainly of neutrophils in the initial phase that was subsequently followed by a tuberculoid type granuloma in immunocompetent mice. Study limitations: There is no a suitable animal model for chromoblastomycosis. Conclusions: The neutrophilic infiltration had an important role in the containment of infection to prevent fungal spreading, including in immunodeficient mice. The fungal elimination was dependent on T lymphocytes. The re-exposure of C57BL/6 mice to Fonsecaea pedrosoi caused a delay in resolving the infection, and appearance of muriform cells, which may indicate that re-exposure to fungi, might lead to chronicity of infection.

Cutaneous malakoplakia: case report and review.

Malakoplakia is a rare acquired disease that can affect many systems but is more common in the urogenital tract. Cutaneous malakoplakia is even rarer. It is far more frequent in immunodeficient patients. We report a case of cutaneous malakoplakia in a kidney transplant patient who had recently stopped receiving immunosuppressive therapy to illustrate a review of the relevant recent literature.

Perforating granuloma annulare mimicking papulonecrotic tuberculid.

A case is reported of a patient presenting lymph node tuberculosis and cutaneous lesions resembling papulonecrotic tuberculid, but histologically compatible with perforating granuloma annulare and which responded satisfactorily to antituberculous therapy. This is probably one of the first reports of the association of perforating granuloma annulare and tuberculosis, and it is important therefore to highlight the relevance of this disorder in the differential diagnosis of papulonecrotic tuberculid and to raise the hypothesis that this entity should also be considered to be a variant of tuberculid.

Dermoscopy of Bowen's disease: pigmented variant on the penis.

Pigmented Bowen's disease (PBD) is a variant of squamous cell carcinoma in situ and represents less than 2% of cases of Bowen's disease. It is characterized by a sharply demarcated, pigmented plaque with a scaly or crusted surface on intertriginous and genital areas. The authors describe a case of PBD on the penis and analyze the dermoscopic aspects of this type of lesion.