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Related Concept Videos

Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Skin Diseases and Disorders01:23

Skin Diseases and Disorders

Skin is the first line of defense and encounters a variety of microbes. Some pathogenic strains are often the cause of a broad range of infections of the skin and other body systems. These conditions can affect people of all ages and may have different causes, including genetic factors, infections, autoimmune reactions, environmental factors, and lifestyle choices.
Gram-positive Staphylococcus spp. and Streptococcus spp. are responsible for many of the most common skin infections. However, many...
Desmosomes01:05

Desmosomes

The term desmosome derives from the Greek words "desmo" and "soma" meaning "adhesion bodies." This structure was first observed during the late 1800s and described as small, dense nodules in the epidermis. Desmosomes are button-like structures that help form an interlinked network of intermediate filaments across the cells. These junctions are  essential to hold cells together under mechanical stress and to maintain tissue integrity. Desmosomes are multi-protein complexes comprising desmosomal...
Skin Cancer01:30

Skin Cancer

Skin cancer is a type of cancer that occurs when there is an abnormal growth of skin cells, usually triggered by damage to the DNA within the skin cells. It is primarily caused by exposure to ultraviolet (UV) radiation from the sun or artificial sources like tanning beds. Skin cancer is the most common type of cancer worldwide, and its incidence continues to rise.
Basal Cell Carcinoma (BCC): BCC is the most common type of skin cancer, accounting for about 80% of cases. It typically develops in...
Papillary Dermis01:11

Papillary Dermis

Dermis
The dermis might be considered the "core" of the integumentary system, as distinct from the epidermis and hypodermis. It contains blood and lymph vessels, nerves, and other structures, such as hair follicles and sweat glands. The dermis is made of two layers of connective tissue that comprise an interconnected mesh of elastin and collagenous fibers, produced by fibroblasts.
Papillary Layer
The papillary layer is made of loose, areolar connective tissue, which means the collagen and...
Pedigree Analysis01:35

Pedigree Analysis

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Related Experiment Video

Updated: May 25, 2026

Anterior High-Resolution Optical Coherence Tomography in the Diagnosis and Therapeutic Monitoring of Ocular Surface Squamous Neoplasia
06:15

Anterior High-Resolution Optical Coherence Tomography in the Diagnosis and Therapeutic Monitoring of Ocular Surface Squamous Neoplasia

Published on: August 9, 2024

Hereditary sclerosing poikiloderma.

Hyo Jin Lee1, Dong Hoon Shin, Jong Soo Choi

  • 1Department of Dermatology, College of Medicine, Yeungnam University, Daegu, Korea.

Journal of Korean Medical Science
|February 11, 2012
PubMed
Summary

Hereditary sclerosing poikiloderma (HSP) is a rare condition causing skin changes like poikiloderma and sclerotic bands. This report details the first Korean case, highlighting key clinical and histopathologic findings of this rare genodermatosis.

Keywords:
Hereditary Sclerosing PoikilodermaKorean

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Area of Science:

  • Dermatology
  • Genetics
  • Rare Diseases

Background:

  • Hereditary sclerosing poikiloderma (HSP) is an extremely rare genodermatosis.
  • Characterized by widespread poikiloderma and distinctive linear hyperkeratotic and sclerotic bands.
  • Limited case reports exist globally, underscoring its rarity.

Observation:

  • An 18-year-old male presented with reticular hyperpigmented lesions since age two.
  • Linear sclerosing bands developed in the antecubital and popliteal fossae.

Findings:

  • Histopathology revealed dense sclerotic collagen fibers and telangiectasia in the upper dermis.
  • Fragmented elastic fibers were observed, consistent with the diagnosis of HSP.

Implications:

  • This case represents the first documented instance of HSP in a Korean individual.
  • Adds to the global understanding of HSP presentation and genetic diversity.