The authors report a case of Hypohidrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome). Diagnosed at the age of 2 months.

Hypohidrotic ectodermal dysplasia

Developmental disorders and malformations of the breast.

Urogenital tuberculosis is the most common form of extrapulmonary tuberculosis. Genital organ involvement occurs as a continuum of urinary tract tuberculosis and often presents a diagnostic challenge due to the non-specific nature of the symptoms. Delay in diagnosis may lead to complications such as infertility and perineoscrotal sinuses. Imaging plays an important role in raising timely suspicion of tuberculosis. In this article, we describe the imaging findings of male genital tuberculosis and the differential diagnosis. High-resolution ultrasonography (HRUS) is the best modality for assessing the epididymis, testis, scrotum and vas deferens, whereas MRI is optimal for evaluating the prostate, seminal vesicles and ejaculatory ducts. Epididymis is the most common site of genital tuberculosis, and presents as a nodular lesion limited to the tail or as diffuse enlargement. The proximal vas deferens is also frequently involved due to anatomical contiguity and shows diffuse or nodular thickening. Advanced cases may show pyocele formation and scrotal wall sinuses. Testicular involvement is almost always secondary to epididymal tuberculosis and presents as single or multiple nodules, diffuse enlargement, or the 'miliary' pattern. Isolated testicular involvement should raise suspicion of malignancy. Tuberculosis of the prostate is often asymptomatic. The most common imaging manifestations are nodules and the diffuse forms, which may later evolve into abscesses. Fibrosis and calcification occur with healing. Seminal vesicle and ejaculatory duct involvement with fibrosis may cause infertility. Awareness of the imaging findings would enable the radiologist to raise timely suspicion, so that prompt treatment is initiated and complications are prevented.

Male genital tract tuberculosis: A comprehensive review of imaging findings and differential diagnosis

The genitourinary region is one of the most common sites of extrapulmonary tuberculosis (TB) involvement. The imaging features of genitourinary TB are protean and can mimic other entities, including malignancy, and pose a diagnostic dilemma. Hematogenous seeding and lymphatic spread of mycobacteria from pulmonary, tonsillar, and nodal TB are implicated in the pathogenesis of genitourinary TB. In addition, contiguous extension from the urinary tract and sexual transmission are described as sources of genital TB. Genitourinary TB can be indolent and results in nonspecific signs and symptoms; thus, imaging has a vital role in the working diagnosis for these cases. Classic uroradiologic signs of genitourinary TB are primarily described from the era of intravenous urography and conventional radiography. Now, CT, CT urography, MRI, and US are used in the diagnosis and management. Familiarity with the imaging features of genitourinary TB may help guide the diagnosis and, in turn, lead to timely management. US has a vital role in the evaluation of scrotal and female genital TB. MRI offers superior soft-tissue contrast resolution and excellent depiction of anatomic detail. The various imaging manifestations of genitourinary TB are highlighted. ©RSNA, 2021.

Imaging Manifestations of Genitourinary Tuberculosis.

OBJECTIVE. The purpose of this article is to review the spectrum, etiopathogenesis, clinical presentation, imaging features, differential diagnoses, and management of emphysematous infections of the abdomen and pelvis. CONCLUSION. Emphysematous infections are associated with high morbidity and mortality and thus need urgent medical and surgical interventions. CT is the most sensitive modality to detect gas; CT provides definitive diagnosis in most cases and can depict the extent of involvement.

Gas Where It Shouldn't Be! Imaging Spectrum of Emphysematous Infections in the Abdomen and Pelvis.

Ectodermal dysplasia (ED) is a rare hereditary disorder involving two or more of the ectodermal structures, which include the skin, hair, nails, teeth, and sweat glands. The two most common forms of the disease are hypohidrotic/anhidrotic ED and hidrotic ED. They are caused by the mutations of several genes. We present a case of a 9-year-old child with hypohidrotic ED, who presented with hypodontia, dyshidrosis, hypotrichosis, and raised body temperature. We treated the raised body temperature symptomatically with cooling techniques and antipyretics. A multidisciplinary approach with physicians from several fields is required to provide comprehensive medical care to patients with ED.

A case report of hypohidrotic ectodermal dysplasia: A mini-review with latest updates.

Testicular tuberculosis (TB) is an uncommon presentation of extrapulmonary TB. Although rare in incidence, it is a great masquerader and should be kept in consideration while assessing focal abnormalities involving the testis. Ultrasound findings alone may be non-specific and mimic other diagnoses including infection, inflammation, tumor, infarct, and trauma. The main objective of this sonographic pictorial review is to discuss the imaging findings, specific differentiating features against each differential and use of ancillary imaging findings whenever available. Concurrent involvement of epididymis, septated hydrocele, scrotal wall edema, and calcification of tunica vaginalis provides strong evidence in an appropriate setting. Available extratesticular ancillary imaging findings must be correlated for correct diagnosis due to non-specific imaging and clinical presentation. Misdiagnosis of scrotal TB may lead to otherwise avoidable epididymo-orchiectomy.

"The Great Masquerader": Sonographic Pictorial Review of Testicular Tuberculosis and its Mimics

Hepatobiliary infections are commonly encountered in emergency settings ranging from common pathology such as pyogenic abscess to relatively uncommon and rare etiologies. Since extensive literature is already available on imaging of more common bacterial infections, for the sake of focused discussion, this review will discuss radiological appearance of less commonly encountered hepatic infections of fungal, parasitic, viral, and tubercular etiologies. Epidemiological and clinical information remain extremely important for obtaining more accurate presumptive diagnosis. In the era of diverse population migration, a modern-era radiologist must be well versed about the imaging spectrum of liver infections.

Beyond pyogenic liver abscess: a comprehensive review of liver infections in emergency settings.

BACKGROUND: Lymphedema is the accumulation of a protein-rich fluid in the interstitial space due to reduced lymph transport capacity Congenital primary lymphedema affecting only one of the upper limbs is a rarity
CASE REPORT: We present a case of an 11-month-old infant presenting with swelling of the right upper limb, which had gradually progressed over the past five months Lymphoscintigraphy was suggestive of lymphatic blockade in the right upper limb All other investigations were within normal limits A diagnosis of primary congenital lymphedema affecting the right upper limb was made The patient was managed conservatively with complex decongestive therapy and was requested regular follow-up The lymphedema did not increase within four months of follow-up
CONCLUSIONS: Complex decongestive therapy is the cornerstone of the management of primary congenital lymphedema New investigational therapies such as leukotriene B4 antagonists hold a promise for patients with lymphedema

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Neeraj Kaur

Papers

A case report of hypohidrotic ectodermal dysplasia: A mini-review with latest updates.

"The Great Masquerader": Sonographic Pictorial Review of Testicular Tuberculosis and its Mimics

Beyond pyogenic liver abscess: a comprehensive review of liver infections in emergency settings.

Gas Where It Shouldn't Be! Imaging Spectrum of Emphysematous Infections in the Abdomen and Pelvis.

Unilateral Primary Congenital Lymphedema of the Upper Limb in an 11-Month-Old Infant: A Clinical and Pharmacological Perspective.