Genotype and phenotype characterization of primary hypertrophic osteoarthropathy type 2 and chronic enteropathy associated with SLCO2A1: Report of two cases and literature review.

Autosomal recessive type 2 primary hypertrophic osteoarthropathy (PHOAR2) and chronic enteropathy associated with SLCO2A1 (CEAS) are two entities caused by pathogenic variants (PVs) in the SLCO2A1 gene that can coexist or occur independently from one another. We report two cases of PHOAR2 in Mexico with concomitant CEAS and conducted a review of the literature of the reported cases of PHOAR2 and/or CEAS to analyze the relationship between their genotype and phenotype presentation. The patients from our Institution with classical PHOAR2 phenotype and CEAS, harbored SLCO2A1 c.547G > A and c.1768del variants. We reviewed 232 cases, of which 86.6% were of Asian origin, and identified 109 different variants in SLCO2A1. Intron 7, exon 13, and exon 4 were predominantly affected. The two most common PVs were c.940 + 1G > A and c.1807C > T. We found a statistically significant association between SLCO2A1 variants located in intron 7, exons 12, and 13 and the development of CEAS. Missense variants were more frequent in isolated PHOAR2, while a greater proportion of protein-truncating variants (PTVs) were found in CEAS. Further investigation is imperative to elucidate the underlying pathophysiological mechanisms associated with CEAS, thereby facilitating the identification of effective therapeutic interventions.

Subungual Keratoacanthoma: Typical and Atypical Presentations of an Uncommon Nail Tumor.

Introduction: Keratoacanthoma (KA) is a group of tumors of epidermal origin with controversial nature. Subungual keratoacanthoma (SUKA) is a rare and destructive variant with more aggressive behavior. SUKA appears as a rapidly growing, painful tumor beneath the nail plate that rapidly progresses to a mass that can measure up to 2 cm. The toe location is unusual. The diagnosis must be made based on the correlation of clinical, radiological, and histopathological findings. Case Presentation: We present two cases of patients diagnosed with SUKAs with different clinical presentations which ranged from very typical to uncommon one. Both cases were treated with simple excision without recurrences. Conclusion: SUKA is a rare subungual tumor. Nail bed location represents a more difficult diagnostic challenge. SUKA should be suspected in the context of persistent and progressive pain on a finger or toe, once more frequent painful tumors have been ruled out.

Multifactorial causes of chronic itch in diabetes: More than just neuropathy.

BACKGROUND: Chronic pruritus is common in patients with diabetes though its pathophysiology is unknown and difficult to pinpoint given the multi-system manifestations of diabetes. Herein, we aim to evaluate the severity of chronic itch in patients with diabetes and its association with glycaemic control, microvascular complications and quality of life. METHODS: We conducted a retrospective study of 105 adults with diabetes evaluated by a dermatologist at a tertiary care centre in Mexico City. Degree of chronic pruritus and its impact on quality of life as well as laboratory, clinical and demographic data were collected. Patients without chronic pruritus (n = 62) were compared to those with chronic pruritus (n = 43). The latter cohort was further stratified by itch severity, and characteristics of their itch were quantified. RESULTS: Neuropathy and loss of protective sensation were more common in patients with chronic pruritus, compared to those without chronic pruritus (p = 0.007 and p = 0.001, respectively). Anxiety and depression were more common in individuals with chronic pruritus (p = 0.009), and these group reported higher effect of pruritus on their quality of life (p < 0.0001). The most common sites of itch were the head, back and arms. Among patients with chronic itch, increasing itch severity was associated with decreasing eGFR (p = 0.080). CONCLUSIONS: The underlying cause of chronic itch in patients with diabetes is likely multifactorial and owing to microvascular complications such as neuropathy and nephropathy. Better understanding of the causes of itch in these patients can allow for more targeted treatment, leading to improved quality of life.

Clinical atrophy patterns of filiform papillae of the tongue and their relationship with the serum levels of iron, vitamin B12 and folic acid in patients with systemic diseases.

BACKGROUND: The purpose of the study was to evaluate the clinical patterns of atrophy of the filiform papillae (FP) of the tongue and their relationship with the serum levels of iron and vitamin B12 among patients with systemic diseases, in a tertiary care center. METHODS: A cross-sectional, analytical, research study was designed. A systematic tongue examination was performed to evaluate the presence and clinical patterns of FP atrophy. We collected epidemiologic, clinical, and laboratory data. Statistical analysis included χ2 test, Fisher's exact test, Kruskal-Wallis test, and a logistic regression analysis. RESULTS: A total of 87 patients (83.9% females) were included [median age = 55 (range 20-89) years]. Endocrinopathy (60.9%) was the most frequent comorbidity. We found atrophy of the FP in 90.8% of the patients; the atrophy was mild in 83.5% of the cases, and severe in 16.5%. The most common atrophic patterns were as follows: focalized in 64 (73.6%) cases, "U"-shaped pattern in 60 (69%), and generalized in 30 (34.5%). Geographic tongue and median rhomboid glossitis were observed in 12 (13.8%) and 11 (12.6%) subjects, respectively. Lower titers of serum iron were detected in cases with focal (median = 71 vs. 110 mcg/dl) and generalized (median = 55 vs. 78 mcg/dl) FP atrophy (P = 0.03 and P = 0.009, respectively), than their counterparts. The presence of symptomatology was related to the focal pattern of atrophy (P = 0.038). CONCLUSIONS: A high frequency of filiform papillary atrophy of the tongue was observed in patients with comorbidities. Some atrophic patterns of the tongue were significantly associated with certain medical conditions.

Giant Koenen Tumors as the Presenting and Only Clinical Sign of Tuberous Sclerosis Complex in a 56-Year-Old Man and Its Surgical Management.

Introduction: Tuberous sclerosis complex (TSC) is a genetic multisystem disorder with prominent skin involvement. Multiple ungual fibromas, also known as Koenen tumors (KTs), are one of the major diagnostic criteria and occur approximately in 50% of patients with TSC. They are disfiguring, painful, and challenging to treat as they frequently recur. There are 2 previous cases in the literature of KTs as the only clinical sign of TSC. Case Presentation: A 56-year-old male patient with intellectual disability presented with a history of ungual growths that had gradually increased in size and number for 20 years. The diagnosis of KTs was established on clinical grounds, without the requirement of histological confirmation. No additional clinical evidence of TSC was found. Complete surgical excision of the tumors located in the proximal nail matrix, periungual folds, and nail bed of each toe was successfully performed. Discussion: The association between KTs and intellectual disability with TSC supported the clinical diagnosis. To date, there is no standard first-line treatment for KTs. Complete surgical excision up to the proximal base of the tumor offers satisfactory results in terms of functionally and esthetic appearance and could be considered the preferred therapeutic modality for patients with severe functional and cosmetic impairment. Prompt recognition of the many signs and symptoms associated with TSC is important to achieve early diagnosis, preventing further complications.

[Syphilitic chancre in the mouth: an unusual location. Case report]. / Chancro sifilítico en la boca: localización poco frecuente. Reporte de un caso.

Background: Syphilis is an infectious disease caused by the spirochete Treponema pallidum, transmitted mainly by direct contact with the lesion. Primary syphilis usually presents with a chancre at the site of infection, which is highly contagious and resolves without treatment. The aim of this article is to illustrate an unusual location of a syphilitic chancre, in order to consider this diagnosis within the approach to patients with oral ulcers. Clinical case: a 30-year-old man who presented a dermatosis located in the left labial commissure, characterized by a painless ulcer of 1 cm in diameter of 20 days of evolution. The patient has a history of HIV/AIDS. A punch biopsy of the dermatosis was performed, with a histopathological report compatible with syphilitic chancre and a negative VDRL result. He was treated with penicillin G benzathine showing improvement. Conclusions: Primary syphilis is characterized by the development of the syphilitic chancre, which is the first manifestation of syphilis in up to 60% of cases. Extragenital presentation is rare, with only 12-14% of all cases, and of these between 40-70% occur in the mouth, being the lips the most frequent location. Oral manifestations can represent a diagnostic challenge due to its wide spectrum of clinical presentations.

Introducción: la sífilis es una enfermedad infecciosa causada por la espiroqueta Treponema pallidum, transmitida principalmente por contacto directo con la lesión. La sífilis primaria generalmente se presenta con un chancro en el sitio de la infección, el cual es altamente contagioso y se resuelve sin tratamiento. El objetivo de este trabajo es ilustrar una localización poco común de un chancro sifilítico, ya que conocer la existencia de presentaciones poco frecuentes permitirá favorecer su sospecha al abordar las causas de úlceras orales. Caso o casos clínicos: hombre de 30 años de edad, el cual presenta una dermatosis localizada en la comisura labial izquierda, caracterizada por una úlcera no dolorosa de 1 cm de diámetro de 20 días de evolución. El paciente tiene antecedente de VIH/SIDA. Se realizó biopsia en sacabocados de la dermatosis, siendo el informe histopatológico compatible con chancro sifilítico y resultado de VDRL negativo. Fue tratado con penicilina G benzatínica, con lo que presentó mejoría. Conclusiones: la sífilis primaria se caracteriza por la aparición del chancro sifilítico, el cual es la primera manifestación de la sífilis hasta en el 60% de los casos. La presentación extragenital es rara, con solo un 12-14% de todos los casos y, de estos, entre un 40-70 % se presentan en la boca, siendo los labios la localización más frecuente. Las manifestaciones orales pueden representar un desafío diagnóstico debido a su amplio espectro de presentaciones clínicas.

Nail Changes in People Living with Human Immunodeficiency Virus: Observational and Cross-Sectional Study in a Third-Level Hospital.

Introduction: Nail changes in people living with human immunodeficiency virus (HIV) have been scarcely reported. The aim of this study was to establish the frequency and characteristics of nail alterations observed in adults with HIV infection in a third-level hospital in Mexico. Method: Observational and cross-sectional study carried out in 205 patients receiving care at the HIV/AIDS Clinic of the Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán (INCMNSZ) in Mexico City. We performed a nail and iconographic assessment of both hands and toenails. We collected information of demographic and clinical variables, as well as drugs use, and antiretroviral treatment used by the participants through a questionnaire and from medical records. We performed direct cytological examinations and nail mycological cultures in participants with symptoms of onychomycosis. Results: The participants were predominantly male patients (91.2%), with a mean age of 41 (range 21-78) years, under antiretroviral therapy (91.2%), with a suppressed viral load (78.5%) and mean CD4+ lymphocyte count of 379.5 (range 20-1,162) cells/µL. Fitzpatrick's IV phototype was prevailing in the studied population (70%). Nail changes were documented in 72.2% of the patients; being pigmentary changes (37.1%) and trauma (30.7%) the most frequent. Onychomycosis was observed in 26.3%; with total dystrophic onychomycosis as the most frequent clinical variant (68.5%). We obtained fungal isolates in 59.3% of participants and Candida parapsilosis was the most frequent of these (37.5%). Conclusions: We observed a high prevalence of nail changes with very diverse etiology, as well as a variety of nondermatophytic yeasts and molds isolates associated with cases with onychomycosis. These findings reinforce and confirm the need for routine nail examination and stress the importance of medical personnel working with people living with HIV to have broad knowledge of nail pathology.

Onycholemmal Horn: An Exceedingly Rare Subungual Tumor.

The onycholemmal horn is an exceedingly rare subungual tumor characterized by trichilemmal-like keratinization pattern. The only previous instance of onycholemmal horn dates back to 1983 when Haneke reported a keratotic subungual tumor clinically and histologically comparable to a trichilemmal horn. No other case of this condition has been reported so far. We present the case of a 72-year-old female patient, with a history of a slowly growing tumor originating from the nail bed epithelium of the left thumb. The lesion was surgically removed, and pathological examination was consistent with the diagnosis of an onycholemmal horn. Additionally, this study aims to elucidate the correlation between the onycholemmal and trichilemmal keratinization.