Extensive morphea profunda with autoantibodies and benign tumors: A rare case report

Budamakuntla, Leelavathy; Malvankar, Dipali D

doi:10.4103/2229-5178.101823

Cited by 3 publications

(3 citation statements)

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“…Multiple asymptomatic hyperpigmented indurated atrophic patches in a generalized distribution in association with neurofibromas and lipomas have been described in a recent report from India [5]. Giri et al also reported similar generalized atrophic lesions in a 26-year-old female [12].…”

Section: Discussionmentioning

confidence: 80%

“…Morphea profunda is a rare variant of deep morphea, with very few cases reported in the worldwide literature. The most common clinical presentation in these cases consisted of solitary or extensive atrophic or fibrotic indurated plaques usually located on the trunk [3][4][5][6]. However, we report the case of localized morphea profunda with a previously unreported presentation of papular and vesiculobullous lesions on a background of thickened hyperpigmented skin affecting the left lower leg.…”

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confidence: 99%

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Localized morphea profunda: An atypical presentation

Dhabal¹,

Chandra²,

Khan³

et al. 2020

IJCR

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M orphea or localized scleroderma is a connective tissue disease characterized by sclerosis of the skin. Sometimes, the disease also involves the underlying deeper tissues. It has been estimated to have an incidence of about 4-27/million population/year with a prevalence ranging from 0.05 to 0.22% over various age groups [1]. The etiology of morphea is unknown, but environmental exposures, immune alterations, autoimmunity, familial predisposition, trauma, vaccination, and Borrelia infection have all been suggested as contributing factors [2]. Clinically, morphea can be classified into five main types: Plaque, generalized, bullous, linear, and deep [1]. Deep morphea encompasses a variety of clinical entities,

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Section: Discussionmentioning

confidence: 80%

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confidence: 99%

Localized morphea profunda: An atypical presentation

Dhabal¹,

Chandra²,

Khan³

et al. 2020

IJCR

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“…Interestingly, atypical presentations of morphea profunda have been reported in the literature [ Table 1 ],[ 3 4 5 6 ] which include vesiculobullous lesions, lymphangiectasis, muscle weakness and atrophy.…”

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confidence: 99%

Morphea Profunda Masquerading as Prurigo Nodularis

Rao

Naresh

Gupta

et al. 2022

Indian Journal of Dermatology

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H syndrome: A histiocytosis-lymphadenopathy plus syndrome. A comprehensive review of the literature

Hamad,

Elwaheidi,

Salameh

et al. 2024

Hematology/Oncology and Stem Cell Therapy

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H syndrome is a rare autosomal recessive genodermatosis that falls under the histiocytosis-lymphadenopathy plus syndrome. The term “H syndrome” includes manifestations such as hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally hyperglycemia. The syndrome is associated with mutations in the SLC29A3 gene, which encodes the human equilibrative transporter 3 present in endosomes, lysosomes, and mitochondria. The generalized and ubiquitous presence of affected lysosomes and mitochondria contributes to the systemic and phenotypically heterogeneous manifestations of the syndrome. H syndrome manifestations are cutaneous, systemic, and organ-specific. The pathognomonic signs are hypertrichosis and hyperpigmentation in the inner thighs and shins. However, not all patients present with these symptoms. H syndrome management involves a multidisciplinary approach to address specific symptoms and complications. The prognosis of H syndrome depends on several factors, including the extent and severity of clinical manifestations, the presence of complications, and timely diagnosis and management. Further studies are needed to explore the association between prognosis and the different mutations encountered in H syndrome.

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Extensive morphea profunda with autoantibodies and benign tumors: A rare case report

Cited by 3 publications

References 5 publications

Localized morphea profunda: An atypical presentation

Localized morphea profunda: An atypical presentation

Morphea Profunda Masquerading as Prurigo Nodularis

H syndrome: A histiocytosis-lymphadenopathy plus syndrome. A comprehensive review of the literature

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