Urticaria Pigmentosa with Systemic Lesions and Otosclerosis

Lerner, Marguerite R.; Lerner, Aaron B.

doi:10.1001/archderm.1960.03730020039006

Cited by 15 publications

(3 citation statements)

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“…In the National Collaborative Perinatal Project done in the U.S.A., external ear malformations were associated with strawberry or port wine hemangiomas, pigmented nevi, cafk-au-lait spots and vitiligo (Melnick & Myrianthopoulos 1979); however, no mention was made of associated microtia and diffuse mastocytosis. Lerner & Lerner (1960) reported bilateral conductive deafness due to osteosclerosis in a patient with mastocytosis. It was thought that the mast cells might have invaded the labyrinths and induced new bone formation, resulting in immobilization of the foot- The fact that the proband's parents were first-degree cousins makes it reasonable to assume that we may be dealing with an autosomal recessive mode of inheritance, although other forms of inheritance cannot be ruled out.…”

Section: Discussionmentioning

confidence: 99%

Skin mastocytosis with short stature, conductive hearing loss and microtia: a new syndrome

et al. 1990

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Section: Discussionmentioning

confidence: 99%

Skin mastocytosis with short stature, conductive hearing loss and microtia: a new syndrome

et al. 1990

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“…In 1960 Lerner reported a case of urticaria pigmentosa with systemic lesions and otosclerosis. 17 He hypothesized that the otosclerosis, a disease in which deafness of the conductive type results from formation of a new spongy bone or vascular osteoid tissue which causes fixation of the footplate of the stapes in the capsule of the labyrinth was caused by invasion of the labyrinth by mast cells. Recently, Wolach et al .…”

Section: Discussionmentioning

confidence: 99%

Familial mastocytosis associated with neurosensory deafness

Trevisan

Pauluzzi

Gatti

et al. 2000

Acad Dermatol Venereol

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Mastocytosis is a disease characterized by excessive accumulation of mast cells in different tissues and symptoms caused by the release of mast cell mediators. The skin is frequently directly involved in mastocytosis. The disease is rarely seen in other members of the subjects' family; only 49 cases of familial mastocytosis have been reported. Familial mastocytosis associated with hearing loss may represent a newly described inherited entity. We describe a brother and sister exhibiting skin mastocytosis and neurosensory deafness, associated with a history of hearing loss in their father's family. The appearance of the mast cell disease in two siblings, who presented with similar clinical features represents a familial form of mastocytosis; the association with an inherited form of deafness may constitute a new syndrome. Our patients show several features similar to some previously reported cases but different insofar that additional congenital defects and mental retardation are absent.

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“…Conductive, neurosensorial, or mixed type hearing loss accompanying cutaneous or systemic mastocyosis has been reported (3–6). Trevisan et al (6) described a brother and a sister with cutaneous mastocytosis and neurosensory deafness, associated with a history of hearing loss in their father's family.…”

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confidence: 99%