A case report of spherocytosis presenting with choledocholithiasis in early childhood and a review of the literature

Erythromelanosis follicularis faciei is a rare sporadic condition of unknown etiology characterized by reddish-brownish patches and follicular papules that appear commonly on the face and rarely on the neck. Herein, we report a 16-year-old male who had asymptomatic facial skin lesions since early childhood. His family history revealed a similar case in his younger brother. His parents are not consanguineous. Skin examination revealed diffuse nonscaly brownish patches with erythematous background and multiple skin-colored, hypopigmented follicular papules on both cheeks. A summary of previous reports of erythromelanosis follicularis faciei in the literature is presented in this report.

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Primary Unilateral Pulmonary Hypoplasia: Neonate through Early Childhood — Case Report, Radiographic Diagnosis and Review of the Literature

Journal of Perinatology ◽

10.1038/sj.jp.7211156 ◽

2004 ◽

Vol 24 (10) ◽

pp. 667-670 ◽

Cited By ~ 13

Author(s):

Matthew E Abrams ◽

Veda L Ackerman ◽

William A Engle

Keyword(s):

Early Childhood ◽

Case Report ◽

Pulmonary Hypoplasia ◽

Review Of The Literature ◽

Radiographic Diagnosis

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Elevation of neuron specific enolase and brain iron deposition on susceptibility-weighted imaging as diagnostic clues for beta-propeller protein-associated neurodegeneration in early childhood: Additional case report and review of the literature

American Journal of Medical Genetics Part A ◽

10.1002/ajmg.a.37432 ◽

2015 ◽

Vol 170 (2) ◽

pp. 322-328 ◽

Cited By ~ 13

Author(s):

Kyoko Takano ◽

Naoko Shiba ◽

Keiko Wakui ◽

Tomomi Yamaguchi ◽

Noriko Aida ◽

...

Keyword(s):

Early Childhood ◽

Case Report ◽

Neuron Specific Enolase ◽

Additional Case ◽

Iron Deposition ◽

Susceptibility Weighted Imaging ◽

Review Of The Literature ◽

Brain Iron ◽

Brain Iron Deposition

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Blue Rubber Bleb Nevus Syndrome: Case Report and Review of the Literature

PEDIATRICS ◽

10.1542/peds.92.1.160 ◽

1993 ◽

Vol 92 (1) ◽

pp. 160-162

Author(s):

MANIKUM MOODLEY ◽

PRATISTADEVI RAMDIAL

Keyword(s):

Early Childhood ◽

Case Report ◽

Gastrointestinal Bleeding ◽

Review Of The Literature ◽

Intestinal Lesions ◽

Cavernous Hemangiomas

In 1860 Gascoyen1 reported the association of cutaneous and intestinal lesions with gastrointestinal bleeding in a man with anemia and numerous cavernous hemangiomas of the skin. This association did not receive much clinical attention until 1958, almost a century later, when William Bennet Bean described a condition with similar findings and coined the term "blue rubber bleb nevus syndrome" (BRBNS), a name that seems aptly chosen because the "cutaneous hemangiomas have the feel and look of rubber nipples.2" The syndrome is usually present from birth or early childhood, but adult presentations have also been reported.3 The pathogenesis of this condition is unknown.

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