ScholarLens Back to search
2002•Pediatric DermatologyOpen access

Rothmund–Thomson Syndrome in Three Siblings and Development of Cutaneous Squamous Cell Carcinoma

Jaime Piquero‐Casals, Alexandre Y. Okubo, Marcello Menta Simonsen Nico

Open full text 35 citations

Abstract

Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive genodermatosis. It is characterized by early onset of progressive poikiloderma and several other cutaneous and extracutaneous findings including alopecia, dystrophic teeth and nails, juvenile cataracts, short stature, hypogonadism, and bone defects. There are several reported cases of skin malignancies in RTS patients, indicating a possibly higher incidence of cutaneous and noncutaneous malignancies. We report three siblings with RTS who developed cutaneous squamous cell carcinoma (SCC).

Open-access reader

About this research paper

What this paper is about

Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive genodermatosis. It is characterized by early onset of progressive poikiloderma and several other cutaneous and extracutaneous findings including alopecia, dystrophic teeth and nails, juvenile cataracts, short stature, hypogonadism, and bone defects. There are several reported cases of skin malignancies in RTS patients, indicating a possibly higher incidence of cutaneous and noncutaneous malignancies. We report three siblings with RTS who developed cutaneous squamous cell carcinoma (SCC).

Why it matters

OpenAlex reports 35 citations for this work. Citation counts describe recorded attention and do not establish research quality.

Key contribution

A contribution statement is not available in the OpenAlex record.

Method / approach

Method details are not available in the OpenAlex metadata.

Main findings

Findings are not separately available in the OpenAlex metadata.

Limitations

Limitations are not available in the OpenAlex metadata.

Applications

Application details are not available in the OpenAlex metadata.

Available abstract

Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive genodermatosis. It is characterized by early onset of progressive poikiloderma and several other cutaneous and extracutaneous findings including alopecia, dystrophic teeth and nails, juvenile cataracts, short stature, hypogonadism, and bone defects. There are several reported cases of skin malignancies in RTS patients, indicating a possibly higher incidence of cutaneous and noncutaneous malignancies. We report three siblings with RTS who developed cutaneous squamous cell carcinoma (SCC).

Key concepts: Genodermatosis, Poikiloderma, Medicine, Cataracts, Dermatology, Short stature, Basal cell, Incidence (geometry)

Related papers

Related paper 1Related paper 2Related paper 3
Back to paper searchBrowse research topicsOriginal source
Rothmund–Thomson Syndrome in Three Siblings and Development of Cutaneous Squamous Cell Carcinoma — Research Paper | ScholarLens