A Case of Focal Dermal Hypoplasia (Goltze Syndrome) Masquerading as Lingual Tonsillar Hypertrophy

Roberts, Samuel T.; Shein, Gregory; Jacobson, Ian

doi:10.1155/2019/9536256

Cited by 1 publication

(1 citation statement)

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“…Other features include raspberry-like papillomas in the perioral area and groin, patchy alopecia, nail changes including longitudinal ridging, micronychia and anonychia, and palmoplantar keratoderma. Papillomas may be present in the upper respiratory tract and oral cavity as well,[ 40 ] causing respiratory distress and dysphagia. A variety of craniofacial manifestations can be present, including microcephaly, cleft lip/palate, ocular abnormalities, dental anomalies, speech problems, and central nervous system (CNS) abnormalities.…”

Section: (B) Disorders Of the Wnt Pathwaymentioning

confidence: 99%

Ectodermal Dysplasia – An Overview and Update

Dev,

Malhi,

Mahajan

2024

Indian Dermatology Online Journal

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Ectodermal dysplasias are a heterogeneous group of disorders that are characterized by abnormal development of ectodermal structures like hair, teeth, nails, and sweat glands. Alhough they were earlier classified according to the structures affected and hence the clinical manifestations, recent developments inch towards a genetic basis for classification. They are currently divided into four groups of disorders based on the pathway involved, which includes the ectodysplasin/nuclear factor-kappa B (NFKB) pathway, wingless-type MMTV integration site family, member 10 ([wingless related integration site] WNT10), tumor protein p63 (TP63), and the structural group. In spite of attempts at the segregation of the various disorders, there is a great degree of overlap in clinical features among the conditions, which makes a thorough history-taking and clinical examination important in helping us arrive at a diagnosis and judge the various systems involved. A multidisciplinary approach forms the crux of the management of patients with ectodermal dysplasias and their families, with a focus on education, counseling, prosthesis, and an overall rehabilitative outlook. Special attention must also be paid to screening family members for varying severities of the disorders, and an attempt must be made at a genetic diagnosis with genetic counseling.

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Section: (B) Disorders Of the Wnt Pathwaymentioning

confidence: 99%