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1.
J Rheumatol ; 51(8): 781-789, 2024 Aug 01.
Artículo en Inglés | MEDLINE | ID: mdl-38879192

RESUMEN

OBJECTIVE: Psoriatic disease remains underdiagnosed and undertreated. We developed and validated a suite of novel, sensor-based smartphone assessments (Psorcast app) that can be self-administered to measure cutaneous and musculoskeletal signs and symptoms of psoriatic disease. METHODS: Participants with psoriasis (PsO) or psoriatic arthritis (PsA) and healthy controls were recruited between June 5, 2019, and November 10, 2021, at 2 academic medical centers. Concordance and accuracy of digital measures and image-based machine learning models were compared to their analogous clinical measures from trained rheumatologists and dermatologists. RESULTS: Of 104 study participants, 51 (49%) were female and 53 (51%) were male, with a mean age of 42.3 years (SD 12.6). Seventy-nine (76%) participants had PsA, 16 (15.4%) had PsO, and 9 (8.7%) were healthy controls. Digital patient assessment of percent body surface area (BSA) affected with PsO demonstrated very strong concordance (Lin concordance correlation coefficient [CCC] 0.94 [95% CI 0.91-0.96]) with physician-assessed BSA. The in-clinic and remote target plaque physician global assessments showed fair-to-moderate concordance (CCCerythema 0.72 [0.59-0.85]; CCCinduration 0.72 [0.62-0.82]; CCCscaling 0.60 [0.48-0.72]). Machine learning models of hand photos taken by patients accurately identified clinically diagnosed nail PsO with an accuracy of 0.76. The Digital Jar Open assessment categorized physician-assessed upper extremity involvement, considering joint tenderness or enthesitis (AUROC 0.68 [0.47-0.85]). CONCLUSION: The Psorcast digital assessments achieved significant clinical validity, although they require further validation in larger cohorts before use in evidence-based medicine or clinical trial settings. The smartphone software and analysis pipelines from the Psorcast suite are open source and freely available.


Asunto(s)
Artritis Psoriásica , Aprendizaje Automático , Psoriasis , Teléfono Inteligente , Humanos , Artritis Psoriásica/diagnóstico , Femenino , Masculino , Psoriasis/diagnóstico , Adulto , Persona de Mediana Edad , Prueba de Estudio Conceptual , Aplicaciones Móviles , Reproducibilidad de los Resultados
2.
J Cutan Pathol ; 49(1): 17-28, 2022 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-34272741

RESUMEN

BACKGROUND: The abundance of publications of COVID-19-induced chilblains has resulted in a confusing situation. METHODS: This is a prospective single-institution study from 15 March to 13 May 2020. Thirty-two patients received PCR nasopharyngeal swabs. Of these, 28 patients had a thoracic CT-scan, 31 patients had blood and urine examinations, 24 patients had skin biopsies including immunohistochemical and direct immunofluorescence studies, and four patients had electron microscopy. RESULTS: COVID-19-induced chilblains are clinically and histopathologically identical to chilblains from other causes. Although intravascular thrombi are sometimes observed, no patient had a systemic coagulopathy or severe clinical course. The exhaustive clinical, radiological, and laboratory work-up in this study ruled-out other primary and secondary causes. Electron microscopy revealed rare, probable viral particles whose core and spikes measured from 120 to 133 nm within endothelium and eccrine glands in two cases. CONCLUSION: This study provides further clinicopathologic evidence of COVID-19-related chilblains. Negative PCR and antibody tests do not rule-out infection. Chilblains represent a good prognosis, occurring later in the disease course. No systemic coagulopathy was identified in any patient. Patients presenting with acral lesions should be isolated, and chilblains should be distinguished from thrombotic lesions (livedo racemosa, retiform purpura, or ischemic acral necrosis).


Asunto(s)
COVID-19/complicaciones , COVID-19/diagnóstico , Eritema Pernio/etiología , Eritema Pernio/patología , Dedos del Pie/patología , Adolescente , Adulto , Anciano , Biopsia/métodos , COVID-19/metabolismo , COVID-19/virología , Eritema Pernio/diagnóstico , Eritema Pernio/virología , Niño , Diagnóstico Diferencial , Glándulas Ecrinas/patología , Glándulas Ecrinas/ultraestructura , Glándulas Ecrinas/virología , Endotelio/patología , Endotelio/ultraestructura , Endotelio/virología , Femenino , Humanos , Livedo Reticularis/patología , Masculino , Microscopía Electrónica/métodos , Persona de Mediana Edad , Pronóstico , Estudios Prospectivos , Púrpura/patología , SARS-CoV-2/genética , Piel/patología , Dedos del Pie/virología , Adulto Joven
3.
J Cutan Pathol ; 47(2): 128-134, 2020 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-31605498

RESUMEN

BACKGROUND: The purpose of the study was to compare the histopathologic and immunophenotypic features of central centrifugal cicatricial alopecia (CCCA) and lichen planopilaris (LPP) to better characterize and differentiate these two clinical entities. CCCA remains an ill-defined and still-unsettled histologic entity and many hair loss experts regard CCCA to be histologically indistinguishable from LPP. Given the overlapping histologic features of these two lymphocyte-predominant cicatricial alopecias, and the lack of consensus regarding the significance of proposed distinctions, dermatopathologists face difficulty in providing clinicians and patients certainty with a definitive diagnosis of CCCA vs LPP. METHODS: We performed a retrospective review of 51 scalp biopsies of patients with either the clinical diagnosis of CCCA (27 cases) or LPP (24 cases). Clinical information, histologic features of hematoxylin-eosin-stained sections, and a panel of immunohistochemical markers were evaluated on scalp biopsies. Tested parameters were quantified, and statistical analysis was performed. RESULTS: Our study found no differences on either histologic assessment or immunophenotypic characterization between cases of classic LPP and CCCA. CONCLUSION: The conclusion of this study is that the inflammatory infiltrates in CCCA and LPP are not only histologically similar but also immunophenotypically indistinguishable.


Asunto(s)
Alopecia , Liquen Plano , Adulto , Anciano , Anciano de 80 o más Años , Alopecia/inmunología , Alopecia/patología , Femenino , Humanos , Liquen Plano/inmunología , Liquen Plano/patología , Masculino , Persona de Mediana Edad
5.
J Cutan Pathol ; 44(1): 53-69, 2017 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-27682637

RESUMEN

The diagnosis of primary scalp alopecia remains one of the most challenging fields in dermatopathology. In this review, we would like to connect the established classification of primary alopecia into scarring (cicatricial) and non-scarring (non-cicatricial) with current concepts. We introduce a simplified pathway for the diagnosis of the most common causes of alopecia, including a discussion of tissue processing techniques and use of immunohistochemistry.


Asunto(s)
Alopecia/clasificación , Alopecia/diagnóstico , Alopecia/patología , Cuero Cabelludo/patología , Cicatriz/patología , Femenino , Humanos , Masculino
6.
Am J Med Genet A ; 170(7): 1799-805, 2016 07.
Artículo en Inglés | MEDLINE | ID: mdl-27127007

RESUMEN

Shwachman-Diamond syndrome (SDS) is a recessive ribosomopathy, characterized by bone marrow failure and exocrine pancreatic insufficiency (ePI) often associated with neurodevelopmental and skeletal abnormalities. The aim of this report is to describe a SDS patient with early ichthyosis associated with dermal and epidermal intracellular lipid droplets (iLDs), hypoglycemia and later a distinctive clinical SDS phenotype. At 3 months of age, she had ichthyosis, growth retardation, and failure to thrive. She had not cytopenia. Ultrasonography (US) showed pancreatic diffuse high echogenicity. Subsequently fasting hypoketotic hypoglycemia occurred without permanent hepatomegaly or hyperlipidemia. Continuous gavage feeding was followed by clinical improvement including ichthyosis and hypoglycemia. After 14 months of age, she developed persistent neutropenia and ePI consistent with SDS. The ichthyotic skin biopsy, performed at 5 months of age, disclosed iLDs in all epidermal layers, in melanocytes, eccrine sweat glands, Schwann cells and dermal fibroblasts. These iLDs were reminiscent of those described in Dorfman-Chanarin syndrome (DCS) or Wolman's disease. Both LIPA and CGI-58 analysis did not revealed pathogenic mutation. By sequencing SBDS, a compound heterozygous for a previously reported gene mutation (c.258 + 2T>C) and a novel mutation (c.284T>G) were found. Defective SBDS may hypothetically interfere as in DCS, with neutral lipid metabolism and play a role in the SDS phenotype such as ichthyosis with dermal and epidermal iLDs and hypoglycemia. This interference with neutral lipid metabolism must most likely occur in the cytoplasm compartment as in DCS and not in the lysosomal compartment as in Wolman's disease. © 2016 Wiley Periodicals, Inc.


Asunto(s)
Enfermedades de la Médula Ósea/fisiopatología , Insuficiencia Pancreática Exocrina/fisiopatología , Hipoglucemia/fisiopatología , Ictiosis/fisiopatología , Lipomatosis/fisiopatología , Enfermedades de la Médula Ósea/diagnóstico , Enfermedades de la Médula Ósea/metabolismo , Epidermis/metabolismo , Epidermis/patología , Insuficiencia Pancreática Exocrina/diagnóstico , Insuficiencia Pancreática Exocrina/metabolismo , Femenino , Humanos , Hipoglucemia/diagnóstico , Ictiosis/diagnóstico , Ictiosis/metabolismo , Lactante , Gotas Lipídicas/metabolismo , Gotas Lipídicas/patología , Lipomatosis/diagnóstico , Lipomatosis/metabolismo , Fenotipo , Síndrome de Shwachman-Diamond
7.
J Am Acad Dermatol ; 74(5): 937-44, 2016 May.
Artículo en Inglés | MEDLINE | ID: mdl-26851831

RESUMEN

BACKGROUND: Distinguishing between diffuse subacute alopecia areata (AA), in which the peribulbar infiltrate is absent, and pattern hair loss is challenging, particularly in cases that lack marked follicular miniaturization and a marked catagen/telogen shift. OBJECTIVE: We sought to distinguish diffuse AA from pattern hair loss using CD3(+) T lymphocytes. METHODS: A total of 28 cases of subacute AA and 31 cases of pattern hair loss were selected and a 4-mm punch biopsy was performed. All the specimens were processed using the "HoVert" (horizontal and vertical) technique. In all cases, hematoxylin-eosin and immunohistochemical stains for CD3, CD4, CD8, and CD20 were performed. RESULTS: The presence of CD3(+) lymphocytes within empty follicular fibrous tracts (stela), even without a concomitant peribulbar infiltrate, is a reliable histopathological clue in supporting a diagnosis of AA (sensitivity 0.964, specificity 1, P ≤ .001). LIMITATIONS: Limited tissue for analysis remained in the clinical sample tissue blocks. CONCLUSION: The presence of CD3(+) T-cells within empty follicular fibrous tracts (stela) supports a diagnosis of AA.


Asunto(s)
Alopecia Areata/patología , Complejo CD3/inmunología , Folículo Piloso/patología , Linfocitos T Reguladores/inmunología , Adulto , Alopecia Areata/diagnóstico , Alopecia Areata/inmunología , Biopsia con Aguja , Estudios de Cohortes , Diagnóstico Diferencial , Femenino , Humanos , Inmunohistoquímica , Masculino , Persona de Mediana Edad , Sensibilidad y Especificidad
9.
J Cutan Pathol ; 43(4): 388-93, 2016 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-26564778

RESUMEN

Xanthelasmoid mastocytosis or xanthelasmoidea is a rare clinical variant of cutaneous mastocytosis characterized by a yellow hue of the clinical lesions, which are often misdiagnosed as juvenile xanthogranuloma. We present two pediatric cases of xanthelasmoid mastocytosis presenting as isolated mastocytomas, which are notable histopathologically for their hypervascularity. This pseudoangiomatous variant of cutaneous mastocytosis is important for pathologists to have knowledge of, so that a diagnosis of a vascular tumor is not rendered accidentally. The yellow hue has previously been explained by the usual deep and solid dermal mast cell infiltrate. In the two presented cases, however, the mast cell infiltrate was sparse, and the yellow color cannot be related to infiltrate density. We believe that the hypervascularity is at least one factor in the production of clinical xanthelasmoid appearance, and we propose the term 'pseudoangiomatous xanthelasmoid mastocytosis' to properly describe this rare variant of cutaneous mastocytosis.


Asunto(s)
Mastocitoma Cutáneo , Xantogranuloma Juvenil , Niño , Femenino , Humanos , Recién Nacido , Masculino , Mastocitoma Cutáneo/irrigación sanguínea , Mastocitoma Cutáneo/diagnóstico , Mastocitoma Cutáneo/metabolismo , Mastocitoma Cutáneo/patología , Xantogranuloma Juvenil/diagnóstico , Xantogranuloma Juvenil/metabolismo , Xantogranuloma Juvenil/patología
11.
J Cutan Pathol ; 42(6): 416-9, 2015 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-25726843

RESUMEN

We report the first case of macular arteritis in a 33-year-old Black, African female with concurrent human immunodeficiency virus (HIV) and hepatitis B virus (HBV) infections. Of particular interest in macular arteritis is the striking discordance between the clinical presentation and the histopathological findings, a fact that both dermatologists and dermatopathologists should be aware. Histopathologically, the case showed typical findings of macular arteritis with a perivascular, predominantly lymphocytic, infiltrate and intraluminal thrombosis. Both HIV and HBV have been reported as viral inducers of cutaneous polyarteritis nodosa (PAN). Their association with macular arteritis in this case supports existing evidence that macular arteritis and cutaneous PAN represent a single-disease spectrum of vasculitides, with macular arteritis representing the chronic, lymphocytic and indolent stage, and cutaneous PAN the neutrophilic, acute stage with a risk for systemic progression. Lymphocytic thrombophilic arteritis (LTA), a third, uncommon disease would be in between macular arteritis and cutaneous PAN on a spectrum. Features of this case and other published cases provide strong evidence that there is a single, mild-to-severe disease spectrum of macular arteritis-LTA-cutaneous PAN.


Asunto(s)
Arteritis/virología , Infecciones por VIH/patología , Hepatitis B/patología , Poliarteritis Nudosa/virología , Enfermedades Cutáneas Vasculares/virología , Adulto , Arteritis/patología , Progresión de la Enfermedad , Femenino , Infecciones por VIH/virología , Hepatitis B/virología , Humanos , Hiperpigmentación/patología , Hiperpigmentación/virología , Linfocitos/patología , Poliarteritis Nudosa/patología , Enfermedades Cutáneas Vasculares/patología , Vasculitis/patología
14.
J Cutan Pathol ; 40(6): 585-90, 2013 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-23521609

RESUMEN

We report histopathological findings in a case of familial Mediterranean fever (FMF) syndrome with an erysipelas-like erythema (ELE). ELE is the only pathognomic cutaneous manifestation of FMF. ELE is characterized by well-demarcated, tender, erythematous and infiltrated plaques recurring on the same site and resolving spontaneously within 48-72 h. FMF is a monogenic autoinflammatory syndrome highlighted by recurrent fever associated with polyserositis involving mainly the peritoneum, synovium and pleura. FMF results from a mutation of the MEFV gene, which encodes for pyrin, leading to Il-1ß activation and promoting neutrophil migration into the dermis. Histopathological findings in our case showed a sparse superficial perivascular and interstitial lymphocytic infiltrate admixed with some neutrophils, no eosinophils and mild papillary dermal edema. Venules and lymphatics were dilated, though no vasculitis was identified. Neutrophils are the most common cutaneous marker of autoinflammation, and cutaneous manifestations of monogenic autoinflammatory syndromes are represented by the spectrum of aseptic neutrophilic dermatoses. Neutrophils in the presence of recurrent fever and in the correct clinical context of recurrent erysipelas in the same site are a diagnostic clue for FMF.


Asunto(s)
Erisipela/metabolismo , Erisipela/patología , Eritema/metabolismo , Eritema/patología , Fiebre Mediterránea Familiar/metabolismo , Fiebre Mediterránea Familiar/patología , Adulto , Proteínas del Citoesqueleto/genética , Proteínas del Citoesqueleto/metabolismo , Diagnóstico Diferencial , Erisipela/complicaciones , Erisipela/genética , Eritema/complicaciones , Eritema/genética , Fiebre Mediterránea Familiar/complicaciones , Fiebre Mediterránea Familiar/genética , Femenino , Humanos , Interleucina-1beta/genética , Interleucina-1beta/metabolismo , Mutación , Neutrófilos/metabolismo , Neutrófilos/patología , Pirina , Síndrome
15.
Pediatr Dermatol ; 30(6): e200-3, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-23679236

RESUMEN

A 10-month-old boy with congenital lamellar ichthyosis presented with a chronic Trichophyton rubrum infection. There was no history of atopy or immunosuppression, and examination revealed high total immunoglobulin E (IgE) with a positive specific IgE for T. rubrum. Multiple treatments with fluconazole were necessary to control the infection. T. rubrum is present worldwide and is responsible for the vast majority of chronic dermatophytosis. Lamellar ichthyosis is a risk factor for chronic dermatophytosis because of excessive keratin and the barrier defect. A delayed-type hypersensitivity reaction to T. rubrum is associated with cure, whereas immediate hypersensitivity and IgE are not protective and may lead to chronic infection. Atopy and the Th2 profile therefore seem to be associated with chronic dermatophytosis. The association between ichthyosis and atopy is well documented. T. rubrum also has an interesting ability to evade immunity, which helps explain the chronic infection. Finally, in ichthyosis, it is likely that fluconazole has difficulty penetrating the acanthotic stratum corneum, which explains treatment failure. We report this case to alert clinicians to the possible association between lamellar ichthyosis and chronic dermatophytosis and to report the difficulties of management.


Asunto(s)
Hipersensibilidad Tardía/microbiología , Ictiosis Lamelar/complicaciones , Tiña/complicaciones , Tiña/patología , Trichophyton/inmunología , Enfermedad Crónica , Humanos , Hipersensibilidad Tardía/inmunología , Inmunoglobulina E/inmunología , Lactante , Masculino , Tiña/inmunología
16.
Skin Appendage Disord ; 9(3): 216-220, 2023 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-37325285

RESUMEN

Introduction: Amyloidosis is a group of diseases characterized by extracellular deposits of abnormal insoluble proteins in different tissues. Amyloidoma is a localized tumoral deposit of amyloid in the absence of systemic amyloidosis, and it has been described in different anatomic sites. We report two cases of amyloidoma in the nail unit and provide insights into this recently described entity. Case Presentation: Both cases presented as an asymptomatic, slowly growing nodule underneath the distal nail bed of a toe with associated onycholysis. Histopathology was characterized in both patients by the presence of deposits of Congo red-positive, homogeneous, amorphous, and eosinophilic material within the dermis and subcutaneous tissue admixed with aggregates of plasma cells. In both cases, an extensive workup excluded systemic amyloidosis. Treatment was based on local excision, and no local recurrence or progression to systemic amyloidosis was observed at 1 year of follow-up. Conclusion: These are the first reports of amyloidomas of the nail unit. The clinical and histopathological presentations parallel those of an amyloidoma affecting the skin. Local excision seems to be an efficient treatment modality, but long-term follow-up is warranted in order to exclude recurrence, an associated marginal B-cell lymphoma, or progression to systemic amyloid L amyloidosis.

19.
J Cutan Pathol ; 39(4): 444-8, 2012 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-22443395

RESUMEN

We report two cases of eruptive tumors of the follicular infundibulum (TFI) with an unusual clinical presentation which has not been described previously in literature. In both cases, the appearance was strikingly similar, consisting of multiple asymptomatic hypopigmented macules on the buttocks of two Black African males, aged 38 and 55 years old. In both cases, the eruption had evolved over several months. The individual lesions were of similar size, approximately 1 cm, with irregular and ill-defined borders. Histopathological examination revealed a superficial and horizontal plate-like proliferation of keratinocytes emanating from the epidermis with multiple slender attachments. Pale keratinocytes were present within the epithelial plates. A Fontana stain showed a loss of melanin pigment from the epithelial plates. Orcein (elastic) stain highlighted an increase of the number of the elastic fibers surrounding the tumor. On the basis of these findings, a diagnosis of eruptive TFI was established for both cases. Among the various presentations of TFI, only the eruptive variant appears to be clinically distinctive, with asymptomatic hypopigmented macules usually located on the face, neck and upper trunk. Eruptive TFI should also be added to the clinical differential diagnosis of multiple hypopigmented macules on the buttocks of Black patients.


Asunto(s)
Población Negra , Epidermis , Trastornos de la Pigmentación , Neoplasias Cutáneas , Adulto , Proliferación Celular , Diagnóstico Diferencial , Tejido Elástico/metabolismo , Epidermis/metabolismo , Epidermis/patología , Humanos , Queratinocitos/metabolismo , Queratinocitos/patología , Masculino , Melaninas/metabolismo , Persona de Mediana Edad , Trastornos de la Pigmentación/metabolismo , Trastornos de la Pigmentación/patología , Neoplasias Cutáneas/metabolismo , Neoplasias Cutáneas/patología
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