Recalcitrant extensive dermatophytosis in twin brothers with APECED syndrome.

Chronic mucocutaneous candidiasis (CMC) is characterized by recurrent infections with Candida spp., often linked to primary immunodeficiencies. We report a case of two 8-year-old monozygotic twin brothers presenting with extensive dermatophytosis, later diagnosed with autoimmune polyendocrinopathy, candidiasis, and ectodermal dystrophy (APECED) syndrome due to a homozygous p.M1V mutation in the AIRE gene. The twins exhibited widespread skin and nail infection, along with malabsorption, dental caries, and other autoimmune manifestations. This case highlights the novel presentation of extensive dermatophytosis in APECED, underscoring the variability in clinical expression even within a single family.

Follicular Becker's nevi: A case series and review of literature.

The follicular variant of Becker's nevus is an under-reported entity. We present the rare occurrence of follicular Becker's nevus in 7 patients, confirmed through dermoscopy and histopathological examination. Dermoscopy shows perifollicular hypopigmentation surrounded by a well-defined net-like pigmentation corresponding clinically to the presence of folliculocentric macules. Histology shows prominent basal and suprabasal melanization surrounding the follicle, corresponding to well-defined net-like pigmentation seen on dermoscopy. However, the melanization does not extend along the entire length of the follicular epithelium leading to perifollicular hypopigmentation on dermoscopy. Though biopsy is confirmatory, it is not usually necessary.

Paclitaxel-Induced Periarticular Thenar Erythema with Onycholysis Syndrome.

Introduction: Periarticular thenar erythema with onycholysis (PATEO) syndrome is a rare subtype of hand-foot syndrome seen in patients undergoing taxane-based chemotherapy. It presents as erythematous to violaceous plaques on the dorsum of hands, feet, and around the Achilles tendon along with nail changes, particularly onycholysis. Case Presentation: A 39-year-old female on paclitaxel chemotherapy for stage IIIA (T3N2aM0) invasive ductal breast carcinoma, presented with mildly tender erythematous to violaceous plaques involving the dorsa of bilateral hands and feet, in the periarticular areas of the Achilles tendon, with facial involvement. All fingernails showed shortening, orange-red chromonychia, Beau's lines, onychoschizia, and subungual debris. The toenail involvement was relatively less severe, with distal onycholysis being the predominant finding. The patient showed significant improvement in cutaneous lesions with topical steroid therapy and was advised cold water immersion during subsequent chemotherapy infusions. Discussion: A shorter interval between cycles and a higher cumulative number of cycles correlate with severity of dermatitis and nail involvement. Rarely, periocular and facial involvement can occur concurrently with PATEO syndrome. This case is being reported to increase awareness about this entity facilitating early diagnosis and treatment.

Co-Occurrence of Pityriasis Amiantacea and Cutis Verticis Gyrata Secondary to Leukaemia Cutis of the Scalp.

Introduction: Pityriasis amiantacea (PA) is a rare presentation characterized by the presence of extensive adherent scaling that tightly encircles and affixes tufts of hairs secondary to inflammatory or infectious dermatoses. However, the occurrence of PA as a consequence of leukaemia cutis has not been previously reported. Case Report: A 32-year-old man with B-cell acute lymphoblastic leukaemia (B-ALL) presented with severe scalp scaling and hair loss for 2 months. Examination revealed extensive, tightly adherent scales encircling and binding down hairs, along with haemorrhagic crusts. Skin examination showed nontender, partially blanchable papules forming ill-defined plaques, giving a cobblestone appearance. Trichoscopy revealed white crusts, tufting, and micro-haemorrhages. Scalp biopsy confirmed precursor B-ALL infiltration. He was diagnosed with PA with secondary cutis verticis gyrata due to leukaemia cutis and referred to a haemato-oncologist for further management. Discussion: Leukaemia cutis is a rare condition where leukaemia cells infiltrate the skin, often associated with acute myeloid leukaemia and ALL. It can lead to secondary verticis gyrata. The co-occurrence of PA and cutis verticis gyrata is rare and previously unreported, highlighting the need for increased awareness among clinicians.

Leukonychia Totalis: An Underreported Sign of Chronic Arsenicosis.

Introduction: Arsenic poisoning results from exposure to arsenic through ingestion, inhalation, or skin contact. Cutaneous and neurological symptoms enable early diagnosis. Diagnostic tests include hair, nail, and urine arsenic levels. Leukonychia can be true, apparent, or pseudoleukonychia, depending on the underlying cause. Case Report: A 27-year-old male on herbal supplement for bodybuilding, presented with whitish discolouration of nails for 2 years and tingling sensation in extremities for 6 months. Electrophysiological tests indicated symmetric sensorimotor polyneuropathy. Arsenic levels were significantly elevated in hair, nails, and herbal supplements. A diagnosis of chronic arsenicosis with leukonychia totalis and early peripheral neuropathy was made. Discussion: Chronic arsenicosis may feature skin changes including pigmentary alterations, palmoplantar keratosis, and the characteristic "raindrops on a dusty road" appearance. Hair loss and nail alterations, such as Mees' lines, are also noted. Arsenic-related neuropathy can be mild or subclinical initially and primarily affects sensory nerve fibres. Total leukonychia due to chronic arsenic exposure has not been reported previously.

Pruritic Trichostasis Spinulosa: A Rare Variant.

Trichostasis spinulosa is a disorder of hair follicles characterized by the retention of vellus telogen club hair, leading to the formation of comedo-like lesions. It usually presents over the face and is frequently asymptomatic. We report a 53-year-old female who presented with multiple itchy, discrete, bluish-black, 2-3 mm comedo-like follicular papules and pustules on her breast and lower abdomen for the past 2 years. In-vivo dermoscopy showed keratotic plugs with a tuft of hair. Extraction dermoscopy yielded a cystic structure filled with keratin and multiple vellus telogen club hairs. Histology showed a cyst lined by squamous epithelium containing abundant laminated keratinous debris and a vellus hair shaft. Truncal or breast involvement, as seen in the present case, is relatively rare, and can be pruritic, causing significant morbidity due to itching and secondary bacterial infections. Dermoscopy, especially ex-vivo extraction dermoscopy, can show diagnostic features and obviate the need for abiopsy.

Ungual Scabies: A Case Report and Review of Literature.

Introduction: Nail unit infestation by scabies mites (ungual scabies) is uncommon. It usually presents with distal subungual lesions, leading to recurrent and persistent disease by acting as a reservoir of infection. Periungual involvement in scabies with nail loss is rare and may lead to severe nail damage. Case Presentation: We report a 14-year-old boy on chemotherapy for acute lymphocytic leukemia (ALL) who presented with extensive scaling and crusted plaques of scabies. Nail unit revealed periungual crusted plaques with paronychia and onychomadesis involving five digits. It was associated with partial to complete nail loss. Dermoscopy of periungual crusted plaques showed greyish-white scales with brown dots and globules. A sinuous burrow with a brown-triangular structure was visualized in the web space. KOH mount from skin scrapings showed the scabies mites. Treatment of scabies led to a marked improvement. Conclusion: Though ungual scabies is generally a benign disease, proximal periungual involvement with damage to nail matrix is possible, leading to nail loss. We review manifestations of nail unit scabies reported in literature. Treatment options used and outcomes are also analyzed. The importance of nail-directed therapy in preventing relapses of scabies cannot be undermined.

Follicular Psoriasis: A Case Report and Review of Literature.

Introduction: Psoriasis is an autoimmune papulosquamous disorder characterized by erythematous plaques. There are various subtypes, of which follicular psoriasis (FP) is an underreported entity, presenting as scaly follicular papules. Only a few cases have been reported, with limited dermoscopy findings having been described. This report aims to review the literature and emphasize the role of dermoscopy in the diagnosis of this rare variant. Case Report: A 31-year-old diabetic and obese male presented with symmetrical, itchy, scaly follicular lesions on his axillae, elbows, and knees for 6 months. Clinical differentials included follicular pityriasis rosea, pityriasis versicolor, or eczema. Dermoscopy revealed white scales and erythematous areas with multiple red dots present around hair follicles. Histopathology showed distended follicular infundibula with parakeratotic scales and psoriasiform changes, leading to a diagnosis of FP. Treatment with topical mometasone furoate and oral levocetirizine led to complete resolution within a month. Discussion: FP is a relatively uncommon subtype of psoriasis, manifesting differently in adults and juveniles. Although its exact cause remains unknown, hair follicle immune cells and/or keratin 17 (K17) may be involved. Dermoscopy can help distinguish it by revealing typical features including perifollicular white scales and vascular structures. Further epidemiological studies and long-term follow-up are needed for a comprehensive understanding of FP.

Clinical characteristics and management outcomes in isolated nail lichen planus: A retrospective case series.

Background Isolated nail lichen planus (NLP) without mucocutaneous involvement is rare. Literature about the clinical profile and management is scarce. Aims/Objective We attempted to characterize the clinico-demographic profile and analyze the management outcome of patients with isolated nail lichen planus. Methods Records of 15 patients were evaluated, and their demographic profile, clinical features of the nail matrix and nail bed disease, onychoscopy findings, histopathological features, treatment given, and follow-up progress were analysed. Results Data from 15 patients were collected. The mean age of the patients was 28.6 ± 19.0 years (range 3.5 years to 56 years). The gender ratio was 0.8 with 7 males and 8 females. The average disease duration at presentation was 2.8 ± 2.6 years (6 months-9 years). The average number of nails involved was 16.4 ± 4.6 (8-20 nails). All 20 nails were involved in 9 (60%) patients. Nail matrix -involvement was seen in all, with onychorrhexis being the most common manifestation, which was seen in 11 (73.3%) patients. Nail bed involvement was seen in 11 (73.3%) patients, with onycholysis being the most common presentation. Severe nail disease was seen in 7 (46.7%) patients, and 5 (33.3%) had pterygium involving an average of 3.4 nails. Moderate to good improvement was observed in 9 (60%) patients after an average of 6.1 ± 2.4 (3-9) treatment sessions with intramuscular and intramatricial triamcinolone acetonide injection. Of these, 2/9 (22.2%) developed disease recurrence in a few nails after an interval of 1 and 1.5 years, respectively. Two patients achieved complete clinical cures that persisted beyond 2 years of follow-up. Limitations Retrospective nature of the series and the small sample size are the major limitations. Conclusion The risk of permanent disfigurement is high in NLP and calls for an early diagnosis and prompt treatment. Intralesional and intramuscular steroids are first-line therapeutic options depending upon the number of nails involved.

Dasatinib-Induced Transverse Melanonychia.

Introduction: Transverse melanonychia, characterized by grey to black pigmented bands traversing the nail plate, can occur as a side-effect of certain medications. While no documented reports specifically associate dasatinib, a tyrosine kinase inhibitor used in the treatment of chronic myeloid leukaemia (CML) and acute lymphoblastic leukaemia, with nail changes, we present a case of transverse melanonychia possibly related to dasatinib therapy. Case Report: A 54-year-old male with CML, receiving dasatinib for 1.5 years, presented with transverse pigmented lines involving all fingernails and toenails. Clinical examination revealed discrete bands of transverse melanonychia in the nails. Onychoscopy of all finger- and toenails revealed multiple longitudinal grey lines within transverse grey bands of homogeneous chromonychia. Based on clinical presentation, onychoscopic features, and temporal association with dasatinib therapy, a provisional diagnosis of dasatinib-induced transverse melanonychia was made. Discussion: The exact mechanisms underlying melanonychia are not fully understood but may involve nail matrix or toxicity, stimulation of nail-matrix melanocytes, or drug deposition within the nail plate. This case highlights the possibility of dasatinib-induced transverse melanonychia and underscores the importance of monitoring and evaluating nail changes in patients undergoing dasatinib treatment.

Pigmented Onychomatricoma Presenting as Pachymelanonychia Striata: A Case Report and Review of Literature.

Introduction: Onychomatricoma is a fibroepithelial tumor derived from the nail matrix and onychodermis. Many clinical and histological variants have been described. Pigmented onychomatricoma is a rare variant which presents as longitudinal pachymelanonychia. Case Presentation: We report the details of a 41-year-old female who presented with blackening and thickening involving more than half of the left middle fingernail for the past 10 years. Dorsal plate onychoscopy revealed longitudinal parallel white, gray, and black bands, while onychoscopy of the distal free edge demonstrated a thickened nail plate with "wood worm" cavities. The histopathological examination of the excised tumor revealed a pigmented onychomatricoma. Conclusions: Onychomatricoma is one of the nail tumors presenting as pachyonychia striata apart from onychocytic matricoma and onychocytic carcinoma. A pigmented onychomatricoma may closely mimic fungal melanonychia, pigmented onychopapilloma, pigmented ungual Bowen's disease, and ungual melanoma. Noninvasive techniques like onychoscopy and imaging studies like ultrasonography and magnetic resonance imaging are helpful in differentiating it from pigmented ungual Bowen's disease and ungual melanoma, even though diagnostic confirmation requires an excisional biopsy.

Long Term Impact of Age at Implantation on Quality-of-Life Outcomes in Cochlear Implant Recipient Children.

Cochlear implantation (CI) is used in management of children with bilateral severe to profound sensorineural hearing loss (SNHL). Recently, due to technological advancements, more and more infants and toddlers are undertaking the CI. The age at implantation may have an impact on CI outcomes. The primary aim of this study was to determine the long-term impact of 'age at implantation' on Health Related Quality of Life (HRQoL) outcome post-CI. In this prospective study at a tertiary care centre, we evaluated 50 CI recipient children from 2011 to 2018. Group A consisted of 35 (70%) children who received CI at less than or equal to 5 years of age and Group B with 15 (30%) children who underwent CI at more than 5 years of age. Following CI, all children received auditory-verbal therapy and thereafter we evaluated their long-term HRQoL outcomes at 5 years post-CI. Children were assessed by Nijmegen Cochlear Implant Questionnaire (NCIQ) and Children with cochlear implants: parental perspectives-questionnaire (CCIPPQ). There were significantly improved HRQoL outcomes (with an increase of 11.7% in mean NCIQ and 11.4% in mean CCIPPQ scores) at 5 years post-CI in CI recipients of age group '5 years or less' as compared to those who underwent CI at 'more than 5 years' age [P value < 0.05 for both the mean NCIQ scores and mean CCIPPQ scores respectively]. However, for children with 'more than 5 years' age at implantation, mean NCIQ and CCIPPQ scores were still more than 80% of maximum achievable NCIQ and CCIPPQ scores. In this study, CI recipient children who were implanted at less than or equal to 5 years of age were found to have significantly improved HRQoL outcomes at 5 years post-CI. Hence, it seems desirable to provide CI at an early age. However, even in children who received CI at more than 5 years of age, there was a substantial enhancement in HRQoL outcomes and CI was still effective in these children. Hence, knowledge of 'age at implantation' may provide reasonable assistance in predicting the HRQoL outcomes and optimal counseling of parents and families of CI candidates.

Review on host-pathogen interaction in dermatophyte infections.

Dermatophytosis is a common superficial fungal infection of the skin and its appendages caused by dermatophytes. Recent times have witnessed a dynamic evolution of dermatophytes driven by their ecology, reproduction, pathogenicity and host immune response, influenced by population migration and socioeconomic status. Dermatophytes establish infection following successful adherence of arthroconidia to the surface of keratinized tissues. The proteolytic enzymes released during adherence and invasion not only ascertain their survival but also allow the persistence of infection in the host. While the cutaneous immune surveillance mechanism, after antigen exposure and presentation, leads to activation of T lymphocytes and subsequent clonal expansion generating effector T cells that differentially polarize to a predominant Th17 response, the response fails to eliminate the pathogen despite the presence of high levels of IFN-γ. In chronic dermatophytosis, antigens are a constant source of stimulus promoting a dysregulated Th17 response causing inflammation. The host-derived iTreg response fails to counterbalance the inflammation and instead polarizes to Th17 lineage, aggravating the chronicity of the infection. Increasing antifungal resistance and recalcitrant dermatophytosis has impeded the overall clinical remission. Human genetic research has the potential to generate knowledge to explore new therapeutic targets. The review focuses on understanding specific virulence factors involved in pathogenesis and defining the role of dysregulated host immune response against chronic dermatophytic infections for future management strategies.

Deregulated phenotype of autoreactive Th17 and Treg clone cells in pemphigus vulgaris after in-vitro treatment with desmoglein antigen (Dsg-3).

The loss of balance between regulatory T (Treg) and T helper 17 (Th17) causes loss of tolerance against desmoglein (Dsg)-3 leading to pemphigus vulgaris (PV), an autoimmune bullous skin disorder associated with autoantibodies against Dsg-3. We aimed to elucidate the complex relationship of Th17 and Treg cells, their molecules, and the underlying mechanism in the development of PV disease. Using cytokine secretion assays, Th17 and Treg cells were sorted by FACS Aria-III within Dsg-3-responsive PBMC population and homogeneous T cell clones were generated in-vitro. Different cell surface molecules like CD25, GITR, CD122, CD152, CD45RO, IL-23R, STAT3, STAT5, CD127, HLA-DR, CCR4, CCR5, CCR6 and CCR7 were studied. The functional response of Th17 and Treg cells were elucidated by measuring the levels of various cytokines released by IL-10 and IL-17 T cells. The mRNA expression of transcription factors (FoxP3 and RORγt) was also analyzed. IL-17 secreting (Th17) cells with phenotype CD4+IL-17+ were greatly increased and IL-10 secreting (Treg) cells with phenotype CD4+IL-10+ were reduced in PV cases than healthy controls. The qPCR analysis showing high expression of retinoic acid receptor-related orphan receptor gamma (RORγt) mRNA in comparison to forkhead box P3 (FoxP3) mRNA confirmed the development of pro-inflammatory Th17 response in PV. Further, the cytokine profile of pro-inflammatory and anti-inflammatory cytokines suggested defective suppressive functions in Treg cells with high inflammatory response. Our findings indicate that autoantigen Dsg-3 specifically allows the proliferation of IL-17 secreting T cells though has a negative effect on IL-10 secreting T cells leading to dysregulation of immunity in PV patients. This antagonistic relationship between Dsg-3-specific Th17 and Treg cells may be critical for the onset and persistence of inflammation in PV cases.

"Pseudotumors" in Dermatology.

In dermatology, "pseudo" is often used as a prefix for entities resembling another standard condition, either morphologically or histopathologically. Correspondingly, "pseudotumor" is a term encompassing dermatological conditions which are not true proliferations, but either have a clinical resemblance to a known tumor (e.g., Pseudokaposi's sarcoma is actually a non-neoplastic condition) or a histopathological resemblance to one (e.g., pseudo-myogenic hemangioendothelioma named due to a histopathological resemblance between myocytes and tumor cells). Often such a nomenclature can create confusion and unnecessary alarm for both the physicians and the patients. Through this article we attempt to summarise "pseudotumors" in dermatology and classify them into clinical and histopathological "pseudotumors", so as to produce a ready reckoner for this confusing nomenclature.