BackgroundAtaxia-telangiectasia (A-T) is a rare autosomal recessive disorder caused by pathogenic ATM gene variants, characterised by progressive cerebellar ataxia, telangiectasia, immunodeficiency, and cancer predisposition. While its immunological and oncological complications are well-documented, clinical heterogeneity, particularly in cases with elevated IgM, poses diagnostic challenges.MethodsFollowing written informed consent, we retrospectively analysed four pediatric A-T patients followed in our clinic. Clinical, laboratory, and radiological data were reviewed, including immunoglobulin levels, vaccine antibody responses, lymphocyte subsets, and alpha-fetoprotein (AFP) levels. Diagnosis was established based on clinical and laboratory findings, supported by whole-exome sequencing (WES) and targeted ATM gene sequencing.ResultsOur findings further support the association between the hyper-IgM phenotype and increased immune dysfunction in A-T. We report the first globally documented case of lupus vulgaris in an A-T patient and identify a previously unreported ATM variant in our country, expanding the disease spectrum. These findings highlight the need for further research on regional genetic variations and their clinical implications.ConclusionThis study highlights the importance of early diagnosis and genetic testing, particularly in atypical presentations. The recognition of novel infectious and autoimmune associations, along with novel variants, underscores the necessity of comprehensive, multidisciplinary follow-up and regional genetic screening efforts.

Cutaneous tuberculosis (CTB), a rare extrapulmonary manifestation of Mycobacterium tuberculosis, poses a diagnostic challenge owing to its diverse clinical presentations and paucibacillary nature. We present six atypical cases diagnosed between January 2022 and January 2025 at a tertiary care centre in North India. All patients were HIV-negative, with diagnoses confirmed by histopathology, cartridge-based nucleic acid amplification test (CB-NAAT), culture, and imaging studies. Unusual manifestations included scrofuloderma of the hand overlying wrist joint TB, lupus vulgaris with acquired lymphangiectasia, tubercular gumma mimicking inoculation TB in an immunocompetent patient, scrofuloderma secondary to rib osteomyelitis, coexisting papulonecrotic tuberculid with erythema induratum of Bazin, and lupus vulgaris resembling bacillary angiomatosis. Standard anti-tubercular treatment (ATT) resulted in clinical resolution in all cases.

Abstract Niels Ryberg Finsen was a pioneer in the field of dermatology. Known in Denmark as the ‘Light Doctor’, he revolutionized phototherapy, which has now become a cornerstone of modern dermatology. Born in the Faroe Islands in 1860, he studied medicine in the University of Copenhagen. Around this time, he began to have a metabolic condition, causing weakness and fatigue. Now thought to have had Niemann–Pick disease, Finsen discovered that exposure to light made him feel more energized. A keen researcher, Finsen devoted his time to studying the benefits of light therapy on medical conditions. He founded the Finsen Institute in 1896, which became a global leader in light therapy research for skin disorders. He was awarded the Nobel Prize in Physiology or Medicine in 1903, for his pioneering work relating to light therapy in the treatment of skin tuberculosis (lupus vulgaris). This is one of the first Nobel Prizes awarded in medicine, and one among the few awarded relating directly to the field of dermatology. He discovered that ultraviolet (UV) and red light could have therapeutic benefits to skin infections caused by Mycobacterium tuberculosis, which was a significant public health concern at the time. Over the next century, this discovery laid the groundwork for further advancements in light therapy, paving the way for modern dermatological treatments such as narrowband UVB therapy for psoriasis, eczema, vitiligo and other autoimmune skin conditions, as well as photodynamic therapy and blue light therapy for skin cancer and acne. Moreover, the laser therapies widely used in the treatment of acne, pigmentation disorders and wound healing are further extensions of the core principles discovered by Finsen, and proof of his lasting influence on modern medicine. Sadly, Finsen’s own metabolic condition progressed. His disease prevented him from attending the Nobel Prize ceremony, and he died shortly after at the age of 44 years. The lifetime work of Niels Ryberg Finsen has inspired countless scientists and dermatologists alike, and led to medical advancements with a lasting impact that continues to be felt in dermatology today.

Abstract Granulomatous skin lesions often pose a diagnostic challenge. Our aim was to describe facial granulomatous lesions and their clinical mimics in Indian patients. Patients with clinically suspected granulomatous facial lesions were included. Clinical, histological and dermoscopic features were recorded. Dermoscopic features of granulomatous lesions and mimics were compared. Of the 77 cases included, confirmed diagnosis could be reached for 58 (75%) cases and probable for 12 (16%) cases, while seven (9%) remained unclassified. Of the 70 confirmed or probable cases, 60 (86%) were classified as granulomatous and 10 (14%) as nongranulomatous. The profile of granulomatous disease was orofacial granulomatosis (n = 25), leprosy (n = 15), sarcoidosis (n = 10), two cases each of histoplasmosis and lupus miliaris disseminatus faciei, and one case each of phaeohyphomycosis, cutaneous leishmaniasis, atypical mycobacterial infection, Wegener granulomatosis, periorificial granulomatous dermatitis, and lupus vulgaris. Nongranulomatous lesions included pseudolymphoma (n = 4), lupus erythematosus (n = 4), neutrophilic dermatosis (n = 1) and local reaction to metal implant (n = 1). Histopathology was consistent with the clinical diagnosis in 59 (77%) lesions, discordant in 7 (9%) and nonspecific in 11 (14%). Of the 19 (25%) cases where clinicopathological correlation could not be established, trialling therapeutic regimens clinched the diagnosis in 12 cases. The dermoscopic features of granulomatous facial skin lesions included red background (32%), orange structureless area (37%), vessels (67%), white scales (75%) and white lines (22%). Nongranulomatous lesions showed linear curved vessels (90% vs. 45%, P = 0.009), perifollicular white colour (40% vs. 10%, P = 0.03) and red focal structureless areas (30% vs. 5%, P = 0.03) more frequently than granulomatous lesions. No statistically significant differences (P > 0.05) were noted in other dermoscopic parameters. In conclusion, idiopathic orofacial granulomatosis, leprosy and sarcoidosis are common facial granulomatous skin lesions, and their clinical mimics include pseudolymphoma and lupus erythematosus. Dermoscopic features overlap between granulomatous and nongranulomatous lesions, with some differences.

Abstract Phototherapy has been a cornerstone of dermatological treatment, evolving from ancient practices into a sophisticated medical intervention. Around 2000 Bce in Egypt, patients with vitiligo applied juice extracted from Ammi majus to affected skin and exposed it to sunlight. This plant contains bergapten and methoxsalen, psoralen derivatives with photosensitizing properties. Although the mechanisms were unknown at the time, the use of sunlight, or heliotherapy, laid the foundation for exploring light as a therapeutic tool. The modern era of phototherapy began in the late 19th century with Danish physician Niels Ryberg Finsen, who developed a concentrated ultraviolet (UV) radiation treatment for lupus vulgaris, a skin manifestation of tuberculosis. His success with UV radiation earned him the Nobel Prize in 1903 and is considered the birth of modern phototherapy. Finsen’s groundbreaking work validated the therapeutic potential of light and marked a significant milestone in dermatology. In the early 20th century UVB therapy became a cornerstone for treating psoriasis, eczema and vitiligo by regulating immune responses and promoting healing. The introduction of narrowband (NB)-UVB therapy in the 1980s refined this approach, offering more targeted treatment with fewer side-effects compared with broad-spectrum UVB. Alongside UVB therapy, psoralen combined with UVA (PUVA) therapy emerged as an effective option for severe cases of psoriasis and other inflammatory skin conditions. However, concerns regarding PUVA’s long-term risks, including skin ageing and cancer, led to safer alternatives like NB-UVB therapy. A significant advancement in phototherapy came with photodynamic therapy (PDT), which combines photosensitizing agents with light to treat skin cancers and precancerous lesions. The foundations of PDT were laid in 1900 when German medical student Oscar Raab discovered the phototoxic effects of certain dyes, such as acridine, when exposed to light and oxygen. Since then, PDT has evolved into a noninvasive alternative to surgery, effectively targeting abnormal cells while preserving healthy tissue. In the late 20th century, lasers introduced new precision in phototherapy, enabling targeted treatment for vascular lesions, acne scars and pigmentation disorders. Light-emitting diodes offered noninvasive options for indications such as acne, wound healing and skin rejuvenation, becoming popular for their accessibility and minimal side-effects. Today, phototherapy remains integral to dermatological care, continually advancing through research into optimized wavelengths, personalized approaches and integration with systemic therapies. From its origins in heliotherapy to cutting-edge technologies, phototherapy’s history reflects a profound and enduring quest to harness the healing power of light. This journey underscores its vital role in both the past and future of dermatology.

Lupus vulgaris is the most common type of cutaneous tuberculosis, known for its diverse clinical presentations, particularly in association with human immunodeficiency virus (HIV) infection. We report a case of disseminated lupus vulgaris with plaques and ulcerative morphology. Despite negative smear and culture results, histopathological examination revealed granulomatous reactions. Further evaluation, including lymph node biopsy and cartridge-based nucleic acid amplification test (CBNAAT), confirmed multifocal tuberculosis.

Background: Cutaneous tuberculosis (CTB) is a rare extrapulmonary manifestation of Mycobacterium tuberculosis infection, with heterogeneous clinical presentations influenced by host immunity, bacterial virulence, and route of inoculation. Despite its declining global incidence, CTB remains a diagnostic and therapeutic challenge due to its paucibacillary nature and histopathological overlap with other granulomatous dermatoses. Objectives: This review elucidates the etiopathogenesis, spectrum of clinical variants (e.g., lupus vulgaris, scrofuloderma, tuberculous gumma), and evidence-based strategies for diagnosis (histopathology, PCR, interferon-gamma release assays) and treatment (multidrug antitubercular therapy, adjunctive surgical interventions). Methods: A systematic literature analysis was conducted using PubMed, Embase, and Cochrane databases (2000–2023), prioritizing clinical studies, case series, and consensus guidelines. Results: CTB accounts for 1–2% of extrapulmonary TB cases, with lupus vulgaris being the most common subtype. Molecular diagnostics (e.g., GeneXpert MTB/RIF) have improved sensitivity over traditional Ziehl-Neelsen staining. Treatment requires standard ATT regimens (e.g., 2HRZE/4HR), though drug-resistant cases necessitate tailored regimens. Conclusion: Heightened clinical suspicion, aided by advanced diagnostics, is critical for timely CTB management. Interdisciplinary collaboration between dermatologists, microbiologists, and infectious disease specialists is paramount to mitigate morbidity.

Background: Cutaneous tuberculosis falls into the category of rare extrapulmonary tuberculosis manifestations which occur throughout the world. The multiple clinical-pathological versions of this condition require diagnosis through histopathological examination. Objective: This study aimed to determine the frequency of various clinico-pathological variants of CTB in patients presenting to a tertiary care hospital. Methods: Researchers assessed patients at the Dermatology Department of Civil Hospital, Karachi during six months starting from April 20, 2018 to October 20, 2018. The researchers included fifty patients who received CTB diagnosis after getting approval from the ethical board and patient consent. For CTB variant diagnosis medical experts conducted history acquisition alongside clinical assessment while performing histopathological examinations. Results: Fifty patients comprised the sample group with 25 males and 25 females divided equally and had an average age of 42.90 ± 12.59 years. Scrofuloderma appeared as the primary clinico-pathological form of tuberculosis (21 cases, 42%) while lupus vulgaris (13 cases, 26%) stood as the second most observed variant and tuberculosis verrucosa cutis (10 cases, 20%) along with tuberculids (6 cases, 12%) followed as the remaining types. Conclusion: The clinical form scrofuloderma presented most often in CTB patients while lupus vulgaris, tuberculosis verrucosa cutis and tuberculids appeared less frequently. Proper diagnosis together with management of CTB demands extensive clinical analysis combined with pathological findings since CTB can exist alongside systemic tuberculosis. Timeous detection along with better understanding between medical professionals remains essential for avoiding serious CTB outcomes.

Cutaneous tuberculosis is a rare form of the disease that defies diagnosis due to the diversity of clinical presentations. This study was based on the reality of a dermatology referral center in the Brazilian Amazon region to detail several characteristics of this disease. To describe a series of cases of cutaneous tuberculosis treated at a dermatology service in the Brazilian Amazon region, addressing epidemiological aspects, clinical forms, diagnostic methods, treatment, and outcomes. This is a descriptive and observational study of the case series type, including eight patients with a confirmed diagnosis of cutaneous tuberculosis seen between 2021 and 2023. A standardized protocol was used to collect data from patients' medical records. Among the eight cases of cutaneous tuberculosis, there were four cases of erythema induratum of Bazin, one case of tuberculosis verrucosa cutis, two cases of scrofuloderma, and one case of lupus vulgaris. Erythema induratum of Bazin, the most common form in the study, occurred predominantly in women, presenting as infiltrated plaques and erythematous nodules. All eight cases were treated with the standard therapeutic regimen of the Brazilian Ministry of Health (rifampicin, isoniazid, pyrazinamide, and ethambutol). They include the small sample size, making generalizations difficult. The study addressed the clinical diversity of cutaneous tuberculosis, with erythema induratum of Bazin as the most common form. The importance of the socioeconomic context in the prevalence of the disease and the need for more comprehensive epidemiological studies to improve the understanding of cutaneous tuberculosis, especially in endemic regions, are highlighted.

In dermatology clinics we routinely come across cases of lesions on the hands. Patients may present with papules, vesicles, nodules on the hands. Such lumps and bumps on hands can be a manifestation of various diseases, ranging from benign lesions to systemic conditions. Routinely the rash on hands indicates primary skin disease. But lesions on hands can be seen in inflammatory conditions like psoriasis, eczema, rheumatoid arthritis, gout or infective diseases like bacterial (folliculitis, anthrax), viral (pox virus, herpetic whitlow, molluscum, wart), mycobacterial (tuberculosis verrucose cutis, lupus vulgaris), fungal infections (sporotrichosis). Few benign lesions like keratoacanthoma, ganglion or malignant conditions like SCC, Melanoma may present. A thorough examination and diagnosis of these lesions can provide valuable insights into underlying conditions. Here I am sharing interesting clinical cases highlighting the significance of hand lesions in diagnosing diseases like infective (secondary syphilis) and inflammatory conditions (gout, psoriatic arthritis) as well as clues to variety of systemic diseases (leprosy, tuberous xanthoma). Lumps and bumps on hands can serve as a valuable diagnostic clue to various diseases. The diagnosis of hand lesions is mostly clinical and depends on the clinical history and exploratory objective findings. A proper history taking, thorough clinical and systemic examination, combined with laboratory tests can aid in accurate diagnosis and timely management. Hand lesions may be a window of systemic disease.

Lupus vulgaris is the most common type of cutaneous tuberculosis in adults with most varied manifestation. A characteristic feature of lupus vulgaris is its extremely chronic course with slow but steady growth of the lesions over a period of many years, even decades. Head and neck are the sites commonly affected in European countries. However, in Indian subcontinent, the buttocks, thighs, and legs are the common sites of involvement. A 36-year-old woman presented with large single plaque of 5 weeks duration over left buttock. The lesion was asymptomatic except for mild pain. Histopathologic examination revealed well defined epithelioid granulomas, some multinucleated giant cells including Langhans type of giant cells. Mantoux test was strongly positive with well-defined induration. This case is being reported because of its rarity and acute presentation. CBMJ 2025 January: Vol. 14 No. 01 P: 156-159

Nasal septum perforation is an uncommon and not well known feature of lupus erythematosus (LE). In general, it occurs during exacerbations and in a context of systemic vasculitis. Very rarely it can be a presenting sign, accompanying more usual manifestations of LE. We report the case of A 47-year-old female with systemic lupus erythematosus who consulted for respiratory difficulties and for whom a clinical examination plus a ct scan was performed, showing a perforation of the nasal septum.

We report a case of a 69-year-old woman with recurrent reddish-brown plaques over the left auricle with milia formation. Diascopy showed an ‘apple jelly’ appearance. Histopathology revealed inflammatory epithelioid granulomas with mild central caseous necrosis. A QuantiFERON TB Gold test, staining for acid-fast bacillus and tissue culture, were negative, and the Mantoux test was weakly positive. The diagnosis of lupus vulgaris was based on a positive polymerase chain reaction for Mycobacterium tuberculosis DNA in both lesions. A triad antitubercular therapy was introduced and the patient’s lesions completely resolved within 6 months, with transient increased milia formation over the lesions.

Abstract English Tuberculosis (TB) of the skin is uncommon, accounting for around 1.5% of extrapulmonary TB (EPTB) cases. Lupus vulgaris and scrofuloderma are the most common manifestations of cutaneous TB, particularly prevalent in children. Although cutaneous TB is not life-threatening, it can cause profound distress to the patient due to discomfort and disfigurement if not adequately treated. As some manifestations mimic other skin diseases, it can be difficult to diagnose, and patients may receive unnecessary or inappropriate treatment before the correct diagnosis is made. Drug-resistant cutaneous TB should be suspected in patients with no response to first-line drugs, with clinical deterioration. We are reporting a case of a 15-year-old male with a skin lesion over the right foot who was treated symptomatically. This case report highlights the fact that cutaneous TB can be drug-resistant if there is failure to respond to first-line drugs. The accurate and early diagnosis will improve the quality of life of the patients and reduce the complexities of the disease.

ABSTRAK Pendahuluan : Lupus vulgaris (LV) adalah tuberkulosis (TB) kutis pausibasiler. Prevalensinya diperkirakan kurang dari 10% dari keseluruhan TB kutis. Penegakan diagnosis LV sering menjadi tantangan sebab basil tahan asam (BTA) sering tidak ditemukan dan gambaran histopatologinya mirip dengan TB kutis bentuk lainnya sehingga perlu korelasi pemeriksaan klinis, dermoskopi, dan histopatologi. Kasus : Laki-laki 48 tahun mengeluhkan bercak merah pada punggung tangan kanan yang tidak gatal, tidak nyeri, mudah berdarah bila terbentur sejak 9 bulan. Terdapat riwayat luka tusuk batang bambu pada lokasi bercak. Riwayat TB paru, kontak dengan pasien TB disangkal. Status dermatologis pada punggung tangan kanan ditemukan lesi serpiginosa tunggal berupa plak violaceous, tepi papul-papul aktif eritema-violaceous, dan bagian tengahnya central healing. Diaskopi tampak blanching dengan tanda apple jelly colour. Laju endap darah 30 mm, HIV non reaktif dan rontgen paru suspek tuberkulosis. Pemeriksaan sputum tidak ditemukan BTA. Dermoskopi ditemukan yellowish white globules, pinkish background, dotted vessels. Gambaran histopatologi tampak granuloma lapisan dermis, sel datia Langhans, tidak ditemukan basil tahan asam (BTA). Diagnosis ditegakkan sebagai LV. Diskusi : Gambaran klinis plak violaceous dengan tanda apple jelly colour adalah tanda radang granulomatosa. Temuan yellowish white globules di atas pinkish background pada dermoskopi merefleksikan granuloma di lapisan dermis. Gradasi warna background pada dermoskopi dan ketebalan plak berhubungan dengan aktifitas penyakit dan proses peradangan aktif dan kronis sehingga dapat dijadikan modalitas diagnostik dan evaluasi terapeutik. Kesimpulan : Kombinasi pemeriksaan klinis, dermoskopi, dan histopatologi dapat digunakan sebagai modalitas diagnosis pada kasus LV Kata kunci : dermoskopi, lupus vulgaris, tuberkulosis kutis

Tuberculosis remains a significant global health challenge, particularly in developing nations. Lupus vulgaris, a rare and chronic form of cutaneous tuberculosis, poses unique diagnostic difficulties due to its indolent progression and paucibacillary nature. It affects both immunocompromised and immunocompetent individuals, often manifesting in those with prior sensitization to Mycobacterium tuberculosis. This article examines three clinical cases of lupus vulgaris, showcasing its varied presentations and the complexities involved in diagnosis. In addition, a comprehensive review of the literature is presented, covering the epidemiology, pathogenesis, clinical features, diagnostic techniques, and treatment approaches for lupus vulgaris. The aim is to increase awareness and understanding of this under-recognized manifestation of tuberculosis, enabling healthcare professionals to recognize and manage it effectively. Emphasizing the importance of early diagnosis and intervention, this article seeks to improve patient outcomes and address the tuberculosis burden, especially in resource-constrained settings

Abstract Lupus vulgaris (LV) is the most common form of cutaneous tuberculosis seen in India. It is a chronic and progressive infectious disease that is seen in a person with moderate to high degree of immunity. It usually originates from an underlying focus that may be present in a bone, joint, or a lymph node. It may arise by contiguous spread of the disease from underlying affected tissue, by hematogenous or by lymphatic spread. The most common sites of presentation in India are the extremities and trunk. LV of the knee is an uncommon site and is seldom reported. Here, we present the case of an 8-year-old boy with LV over the right knee.

Abstract Cutaneous tuberculosis (TB) makes up a small proportion of extrapulmonary TB. Studies from India report an incidence of 0.1% of all cases of extrapulmonary TB. Lupus vulgaris (LV) is a common form of TB which is usually seen in individuals who have been previously sensitized with Mycobacterium TB. Here, we are reporting a case of orofacial granulomatosis in a 21-year-old female which highlights the importance of histopathology in aiding diagnosis in such patients where multiple etiologies may be responsible for a particular clinical presentation, along with the atypical presentation of LV.

Tuberculosis (TB) is a chronic disease that can affect multiple organs including, the skin. Cutaneous TB poses a great challenge to dermatologists due to its varied clinical presentations and non-specific histopathological findings. Objective: To determine the frequency of clinicopathological patterns of Cutaneous Tuberculosis in children and adults in a Tertiary Care Hospital. Methods: A descriptive cross-sectional study included 63 patients diagnosed with Cutaneous TB at the Department of Dermatology, Dr. Ruth KM Pfau Civil Hospital, Karachi, Pakistan from January 2020 to December 2022. All the patients were clinically evaluated and histopathological features were recorded. Results: The common age group was 21-30 years, with male predominance. Lupus Vulgaris was the most common clinicopathological type in 46 cases (73%), followed by Scrofuloderma in 9 cases (14.3%). Tuberculous Verrucosa cutis and Tuberculous Gumma accounted for 4.8% of cases, while Acute Military Tuberculosis and Tuberculous Panniculitis accounted for 1.6% of cases. The most predominant morphology of the lesion was Erythematous Plaque (36.5%) and the most commonly affected site was face (30.2%). Epitheloid Granuloma with langerhans giant cells were typically present in most of the cases, with Caseous Necrosis more predominantly seen in Scrofuloderma (44.4%), TB Gumma (66.6%) and Acute Military TB (100%). Conclusions: Lupus Vulgaris is the most common presentation of Cutaneous TB followed by Scrofuloderma. Epitheloid Granuloma with langerhans giant cells, with or without Caseous Necrosis is the predominant histopathological presentation. Clinical and histopathological assessment is crucial for an appropriate diagnosis.

Abstract We present a rare case of lupus vulgaris in a 9-year-old boy with an asymptomatic raised lesion on the left cheek, initially posing a diagnostic challenge due to its atypical presentation. Clinical and investigative findings were analysed, including the patient’s medical history, physical examination, routine investigations, Mantoux test, differential diagnoses, histopathological examination and response to treatment. The patient presented with a progressively enlarging, single, well-defined erythematous plaque (1 × 1 cm) on the left cheek over 2 months. Notably, a bacille Calmette–Guérin scar was present, and routine investigations, including chest X-ray, were normal. The Mantoux test yielded a positive result (18 mm). Differential diagnoses considered were borderline tuberculoid Hansen disease, lupus vulgaris, sarcoidosis, and granuloma annulare. Histopathological examination revealed mild flattening of the epidermis with elongated rete ridges, accompanied by numerous epithelioid granulomas in the dermis and epidermal junction, surrounded by inflammatory infiltrate. A 20% acid-fast bacilli (AFB) staining for Mycobacterium tuberculosis was positive. However, sputum smear for AFB was negative. The final diagnosis was lupus vulgaris, a rare form of cutaneous tuberculosis. This case highlights the importance of considering lupus vulgaris in the differential diagnosis of facial lesions, even in paediatric patients. The positive Mantoux test and histopathological findings supported the diagnosis, emphasizing the need for a multidisciplinary approach in challenging cases. Treatment involved a 6-month course of category 1 antitubercular therapy. This case underscores the significance of early diagnosis and prompt initiation of appropriate therapy to prevent complications and ensure a favourable outcome. This report contributes to the limited literature on lupus vulgaris in paediatric patients, emphasizing the necessity of vigilance among dermatologists in recognizing atypical presentations of cutaneous tuberculosis, particularly in regions with a high prevalence of tuberculosis.