Extensive and deep granulomatous ulcers as an atypical manifestation of cartilage-hair hypoplasia syndrome: A diagnostic and therapeutic challenge.

Cartilage hypoplasia syndrome is a primary immunodeficiency disease characterized by short stature, hypoplastic hair and a variable degree of immunodeficiency. Noninfectious cutaneous granulomas represent an uncommon yet well-recognized manifestation within the spectrum of primary immunodeficiency diseases. However, cutaneous granulomas as a manifestation of cartilage-hair hypoplasia syndrome, are extremely rare. We present a case of a middle-aged man with cartilage hypoplasia syndrome featuring cutaneous granulomas, manifesting as chronic, extensive and deep cutaneous ulcers. The patient was treated with anti-TNF-alpha adalimumab with partial improvement. Our case underscores the broad spectrum of clinical manifestations associated with cartilage hypoplasia syndrome and adds new evidence to the potential therapeutic efficacy of anti-TNF-alpha drugs in its treatment.

Approach to the so-called "Invisible Dermatosis": When Subtle Histopathological Findings Guide Diagnosis.

ABSTRACT: Invisible dermatosis is a concept that can be applied either to clinical or histopathological findings. We will focus on the dermatopathological aspect of this invisible dermatosis that can be seen as dermatosis with subtle histopathological findings that are mandatory to known to stablish the diagnosis. With a proper approach facing in depth the different skin layers from stratum corneum to subcutaneous tissue combined with some especial stains, special investigations and mostly a proper clinicopathological correlation, the problem of missing out a diagnosis can be decreased. We will review the general aspects for diagnosis and the peculiar findings of an in-depth review of them because it is important to note that minor changes on a skin biopsy do not mean it is disease free. We will review classic clues, we will add some new useful ones, and we will also provide a guide on the special stains helpful, such as periodic acid-Schiff when facing fungi, orcein-Giemsa and van Gieson when altered elastic fibers are suspected, or Pearl and Masson Fontana when an altered skin pigmentation is suspected.

LRP1/CD91 is highly expressed in monocytes from patients with vitiligo - even after repigmentation.

Vitiligo pathophysiology is mediated by antigen-specific cytotoxic T cells. Environmental stressors cause susceptible melanocytes to secrete damage-associated molecular patterns (DAMPs). DAMPs are recognized by receptors such as the endocytic low-density lipoprotein receptor-related protein (LRP1/CD91), expressed in antigen-presenting cells, which activate self-reactive CD8+ T cells, leading to melanocyte destruction. Within this response, interferon gamma triggers production of cytokine CXCL10, recruiting more activated T cells causing further melanocytic damage. We hypothesized that expression of LRP1/CD91 was higher in vitiligo patients compared to non-vitiligo individuals. And further that levels/expression of CXCL10 in plasma were linked to disease severity. We enrolled forty individuals in this study: 18 patients with vitiligo and 22 healthy volunteers. We assessed LRP1/CD91 expression and plasma CXCL10 in patients with vitiligo and healthy volunteers. Additionally, vitiligo patients received combined treatment for 16 weeks following which the said parameters were reassessed. Vitiligo Area Scoring Index was calculated before and after treatment for these patients. Analysis of LRP1/CD91 MFI values in monocytes from vitiligo patients showed high surface levels of LRP1/CD91 than from healthy volunteers (10.50 ± 0.77 vs. 6.55 ± 0.77 MFI units, p < 0.001). This expression did not change after treatment. Plasma levels of CXCL10 were higher in vitiligo patients than healthy volunteers (93.78 ± 7.73 vs. 40.17 ± 6.25 pg/ml). The patients with a good clinical response to treatment had a parallel reduction in plasma CXCL10 levels (105.8 ± 18.44 vs. 66.13 ± 4.87 pg/ml) before and after treatment. LRP1/CD91 expression may reflect susceptibility to vitiligo. Plasma levels of CXCL10 can represent a biomarker for monitoring treatment response. LRP1 and CXCL10 may represent therapeutic targets.

Non-Steroidal Topical Therapy for Facial Seborrheic Dermatitis.

Seborrheic dermatitis (SD) is a chronic, recurrent, inflammatory skin disorder occurring in areas rich in sebaceous glands. It manifests clinically as erythematous macules or plaques with varying levels of scaling and associated pruritus. Although the pathogenesis of SD has yet to be fully understood, Malassezia yeasts, hormones, sebum levels, and immune response are known to play important roles. Additional factors including drugs, winter temperatures, and stress may exacerbate SD. Current available treatments include antifungal agents, topical low-potency steroids, and calcineurin inhibitors. We aimed to evaluate the effectiveness of a topical non-steroidal cream in treating facial seborrheic dermatitis (FSD). We performed a case series of 11 patients with mild or moderate FSD and a history of several previous treatments without improvement. The patients were treated for 8 weeks with a topical non-steroidal facial cream (NSFC) containing zinc PCA, piroctone olamine, hydroxyphenyl propamidobenzoic acid, biosaccharide gum-2, and stearyl glycyrrhetinate. Signs and symptoms and tolerance were assessed before, during, and at the end of treatment. All of the patients had improved symptoms of FSD (desquamation, pruritus, erythema, and stinging sensation); 81.8% showed an excellent response and 18.1% showed a good response. None of the patients had adverse effects. J Drugs Dermatol. 2020;19(6): doi:10.36849/JDD.2020.5121.

Clinical and genetic evaluation of six children with diffuse capillary malformation and undergrowth.

BACKGROUND: Diffuse capillary malformation with overgrowth (DCMO) has been well described. However, capillary malformation with undergrowth (CMU) has been less reported in the literature. OBJECTIVES: We sought to describe the clinical features and determine associated somatic mutations in patients with CMU. METHODS: We searched our multidisciplinary vascular anomalies clinic database for patients with CMU. Girth and length limb measurements were performed. In case of discrepancies in length, long leg radiograph studies were obtained. Whole-exome sequencing of blood and involved tissue DNA was carried out. RESULTS: We included six patients with CM and soft-tissue and bone undergrowth. CMs were patchy, reticulated, segmental, poorly demarcated, pink-red stains affecting the lower limb (five patients) or the whole hemibody (one patient). In five patients, the stain was diffuse, affecting more than one anatomic region. Prominent superficial veins were observed in three patients. Five patients presented with lower limb girth discrepancy; in three of them, there was also lower limb length discrepancy. In the remaining patient, only lower limb length discrepancy was found. Whole-exome sequencing from DNA tissue/blood detected previously described pathogenic somatic mutations on DDR2 (c.314G > A; p.Arg105His), GRHL2 (c.791A > G; p.Glu264Gly), and PIK3CA (c.2740G > A; p.Gly914Arg) genes. CONCLUSION: We propose the term "diffuse capillary malformation with undergrowth" for extensive reticular CMs associated with proportionate undergrowth. All our patients had a favorable outcome, and no genotype-phenotype association was found.

Psoriasis precipitated by timolol eye drops. A series of eight cases.

Induction of psoriasis following administration of beta blocker containing eye drops has rarely been documented. We report eight cases of psoriasis triggered by timolol eye drops. Since the clinical and histopathological features of this drug reaction are indistinguishable from those of idiopathic psoriasis, a thorough drug history should be taken in all patients, especially elderly ones, with recent onset of psoriasis.

Childhood ocular mucous membrane pemphigoid successfully treated with rituximab.

Ocular mucous membrane pemphigoid (MMP) is a chronic autoimmune blistering disease that usually affects elderly patients being extremely rare in pediatric population. Despite aggressive immunosuppressive therapy, ocular MMP may progress causing significant morbidity. Herein, we describe a toddler with ocular MMP successfully treated with rituximab.

Verrucous Plaque With Unusually Large Candida Blastoconidia: A Unique Clinicopathological Presentation of Systemic Mucocutaneous Candidiasis.

Mucocutaneous candidiasis is a common infection affecting both immunocompetent and immunosuppressed individuals. Diversity in the clinical and histopathological presentation of mucocutaneous candidiasis is well known. However, the occurrence of cutaneous verrucous lesions and giant yeast-like structures has been rarely reported. In this article, we describe a case of disseminated mucocutaneous candidiasis in an immunosuppressed patient who presented as a verrucous plaque on the scrotum with giant Candida blastoconidia. This peculiar presentation expands the clinicopathological spectrum of mucocutaneous candidiasis and highlights the wide range of clinical manifestations and great morphologic variability of this common fungal infection.

Intraepidermal Merkel cell carcinoma: A case series of a rare entity with clinical follow up.

BACKGROUND: Merkel cell carcinoma (MCC) is a rare but aggressive cutaneous carcinoma. MCC typically involves dermis and although epidermotropism has been reported, MCC strictly intraepidermal or in situ (MCCIS) is exceedingly rare. Most of the cases of MCCIS described so far have other associated lesions, such as squamous or basal cell carcinoma, actinic keratosis and so on. Herein, we describe 3 patients with MCC strictly in situ, without a dermal component. METHODS: Our patients were elderly. 2 of the lesions involved the head and neck area and 1 was on a finger. All tumors were strictly intraepidermal in the diagnostic biopsies, and had histomorphologic features and an immunohistochemical profile supporting the diagnosis of MCC. Excisional biopsies were performed in 2 cases and failed to reveal dermal involvement by MCC or other associated malignancies. RESULTS AND CONCLUSION: Our findings raise the awareness that MCC strictly in situ does exist and it should be included in the differential diagnosis of Paget's or extramammary Paget's disease, pagetoid squamous cell carcinoma, melanoma and other neoplasms that typically show histologically pagetoid extension of neoplastic cells. Considering the limited number of cases reported to date, the diagnosis of isolated MCCIS should not warrant a change in management from the typical MCC.