Imaging manifestations of juvenile hyaline fibromatosis: A case report and literature review

Objective: Juvenile hyaline fibromatosis (JHF) is an autosomal recessive condition caused by a mutation in capillary morphogenesis gene 2 (CMG2) on chromosome 4q21. JHF is an extremely rare genetic disorder, and fewer than a hundred cases have been reported worldwide. In this case report, the clinical features, histopathological features and imaging manifestations of a case of JHF are presented. We present imaging manifestations of one case of JHF to deepen the radiologist’s understanding of this condition. The histopathological feature of JHF is hyaline degeneration involving skeletal muscle. Therefore, the lesion has a slightly high density on CT imaging, iso- or hypointense signal on T1WI and hypointense signal on T2WI. The boundary between the lesion and skeletal muscle is unclear. Methods: An 8-year-old male (case 1) was examined in our department with a complaint of multiple masses on the head, neck and back in 2021. The boy was the only child of his parents and was delivered at 40 weeks gestation by caesarean section. His parents were nonconsanguineous. Results : JHF displays multiple slowly or rapidly growing subcutaneous nodules. The imaging manifestations can reflect histopathological components, including nodular connective tissue and amorphous, partially calcified hyaline material.

Presence of ascites in bullfrog breeders reared and kept on a frog farm

ABSTRACT Ascites is a pathology characterized by the extravasation of fluid from blood vessels and its accumulation in the abdominal cavity, caused by several associated factors. In this paper, we report the occurrence of this syndrome in breeding male and female Bullfrogs fed a commercial fish feed with 40% crude protein. Liver malformation was already observed due to lack of protein deposition in adult animals from the same spawning. The culture of ascitic fluid showed absence of bacterial growth. Kidney histopathology showed, in both sexes, a large number of tubular structures with strongly eosinophilic hyaline material suggesting colloid growth in both the cortical region and spinal cord. The analysis also revealed granulomas in various stages of development, many showing central necrotic material. The kidneys, glomerular, were mostly hypoplastic, with enlarged Bowman space, and many were hyalinized or hemorrhagic; the parenchyma showed dystrophic calcification, and many tubules containing fibrinoid material. The liver displayed a large amount of melanomacrophages in the parenchyma and foci of mono-lymphocytic hepatitis and marked cytoplasmic rarefaction, as well as several hepatocytes with pyknotic nuclei and necrotic cells and dissociation of the hepatic trabeculae. Ascites may be caused by the lesions observed in these organs.

Pulmonary hyalinosis in captive sugar gliders (Petaurus breviceps)

Pulmonary hyalinosis is an idiopathic, typically incidental lesion of old dogs, characterized by multifocal aggregates of epithelioid and multinucleate macrophages that surround periodic acid–Schiff (PAS)-positive hyaline material in airways. Lung lesions resembling pulmonary hyalinosis were observed in 6 captive adult sugar gliders ( Petaurus breviceps; 5 females and 1 male) in a retrospective review of 18 autopsied animals. Clinical signs for 3 of the sugar gliders included lethargy, tachypnea, and dyspnea. At autopsy, 5 of 6 animals had comorbid lesions that were the primary cause of death. Gross pulmonary lesions were characterized by mildly firm, discolored, vaguely nodular areas of parenchyma. Histologic examination of the lung revealed granulomatous inflammation with intracellular and extracellular amphophilic hyaline bodies within alveoli and airways. Hyaline bodies were positive for PAS and oil red O staining, blue via crystal violet staining, and displayed birefringence under polarized light, similar to findings in dogs with pulmonary hyalinosis.

Lipoid Proteinosis: A Rare Encounter in Dental Office

Lipoid proteinosis is a sporadic congenital metabolic disorder which is characterized by deposition of hyaline material in dermis, submucosal connective tissue, and various internal organs. It has an extremely low prevalence rate with less than 300 cases reported so far. This progressive disease has a vast spectrum of manifestations ranging from asymptomatic lesions to fatal seizures and respiratory obstruction making timely diagnosis of this rare disorder an imperative task for oral health care practitioners. We report a case of characteristic oral manifestations of lipoid proteinosis in a 28-year-old male patient along with a review of relevant prevailing literature.

A Rare Cause of Hoarseness of Voice: Lipoid Proteinosis of the Larynx

ABSTRACT Lipoid proteinosis (LP) is a rare genetic disease with autosomal recessive inheritance. It most often involves deposition of periodic acid Schiff positive hyaline material in skin, oral mucosa, larynx and other tissues. But it also involves the central nervous system, lungs, lymph nodes and striated muscles. Hoarseness, small papules on the eyelid border (moniliform blepharosis), enlarged tongue, waxy skin, and diffuse verrucous skin colored or yellowish papules and plaques on traumatized areas and oral mucosa are the most common features leading to the clinical diagnosis of LP. We present the case report of a 12-year-old boy with significant hoarseness, inability to protrude the tongue, beaded papules along the eyelid margins, and scarring of the skin. Of his two sisters, one had the same symptoms but with less clinical severity and the other had no features of LP. How to cite this article Swain SK, Panda M, Patro N, Sahu MC. A Rare Cause of Hoarseness of Voice: Lipoid Proteinosis of the Larynx. Int J Phonosurg Laryngol 2014;4(1):23-26.

Urbach-Wiethe Disease: A Rare Cause of Hoarseness of Voice

ABSTRACT Urbach-Wiethe disease is a rare, autosomal recessive disorder, characterized by infiltration of periodic acid-Schiff positive hyaline material into the skin, oral cavity, larynx and internal organs. The clinical manifestations include hoarseness of voice, beaded papules along the eyelid margins, skin scarring and an inability to protrude the enlarged and thickened tongue. Laryngeal involvement is typical and causes hoarseness of voice. In this paper, we present a case of a middle-aged female with clinical features suggestive of Urbach-Wiethe disease. This entity is of interest to the otolaryngologist as it is a rare cause of hoarseness of voice. How to cite this article Koganti D. Urbach-Wiethe Disease: A Rare Cause of Hoarseness of Voice. Int J Phonosurg Laryngol 2013;3(2):61-64.