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Related Concept Videos

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...
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...
Endocarditis II: Clinical Features of Infective Endocarditis01:25

Endocarditis II: Clinical Features of Infective Endocarditis

Endocarditis can present various clinical features depending on the causative organism and the patient's underlying health conditions. Initially, the clinical features of infective endocarditis develop gradually, presenting with nonspecific symptoms that can be easily mistaken for other illnesses.General SymptomsEarly symptoms of infective endocarditis are fever, chills, weakness, malaise, fatigue, and weight loss. These symptoms reflect the systemic nature of the infection and the body's...
Gastritis-II: Pathophysiology01:17

Gastritis-II: Pathophysiology

Gastritis is marked by disruption of the mucosal barrier that usually protects the stomach tissue from digestive juices and manifests in acute and chronic forms.
In acute gastritis, the gastric mucosa becomes swollen and red and undergoes superficial erosion. Superficial ulceration may lead to bleeding.
In chronic gastritis, persistent or repeated insults lead to chronic inflammatory changes and, eventually, thinning or atrophy of the gastric tissue.
Gastritis can stem from various causes, each...
Atypical Pneumonia01:14

Atypical Pneumonia

Atypical pneumonia, often caused by Mycoplasma pneumoniae, is a form of pulmonary infection that differs from the classical presentation of bacterial pneumonia in both its cause and clinical symptoms. Mycoplasma pneumoniae is a pleomorphic bacterium notable for its lack of a rigid cell wall. This structural characteristic imparts resistance to beta-lactam antibiotics and significantly influences the bacterium’s behavior within the human host.Other pathogens responsible for the disease include...
Acne Infection01:27

Acne Infection

Acne is a multifactorial skin condition primarily affecting adolescents and young adults, with a global prevalence estimated to exceed 75% in this demographic. The condition is characterized by the formation of comedones (blackheads and whiteheads), papules, pustules, nodules, and, in severe cases, cysts, particularly in areas rich in sebaceous glands such as the face, neck, chest, and back. The pathogenesis involves increased sebum production, follicular hyperkeratinization, colonization by...

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A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
07:50

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

Published on: September 20, 2018

Atrichia with papular lesions.

Manish Bansal1, Kajal Manchanda, Sachin Lamba

  • 1Departments of Dermatology and Venereology, Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, India. manishderma@gmail.com

International Journal of Trichology
|January 7, 2012
PubMed
Summary
This summary is machine-generated.

Atrichia with papular lesions (APL) is a rare genetic disorder causing irreversible hair loss and skin cysts. Early diagnosis is crucial to prevent misdiagnosis and ineffective treatments.

Keywords:
Alopecia universalisatrichiapapular

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Recognition of Epidermal Transglutaminase by IgA and Tissue Transglutaminase 2 Antibodies in a Rare Case of Rhesus Dermatitis
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Recognition of Epidermal Transglutaminase by IgA and Tissue Transglutaminase 2 Antibodies in a Rare Case of Rhesus Dermatitis

Published on: December 15, 2011

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Recognition of Epidermal Transglutaminase by IgA and Tissue Transglutaminase 2 Antibodies in a Rare Case of Rhesus Dermatitis
10:27

Recognition of Epidermal Transglutaminase by IgA and Tissue Transglutaminase 2 Antibodies in a Rare Case of Rhesus Dermatitis

Published on: December 15, 2011

Area of Science:

  • Dermatology
  • Genetics

Background:

  • Atrichia with papular lesions (APL) is a rare autosomal recessive genetic disorder.
  • It is characterized by irreversible alopecia and papular keratin cysts, typically presenting in infancy.
  • APL is linked to mutations in the human hairless gene (h) on chromosome 8p12.

Observation:

  • An eleven-year-old male presented with extensive alopecia since six months of age.
  • The patient also had keratotic papules on the face and trunk.
  • Scalp biopsy revealed few vellus follicles and no terminal hairs, while papule biopsy showed mid-dermal keratin cysts.

Findings:

  • The clinical presentation and biopsy findings confirmed the diagnosis of Atrichia with papular lesions (APL).
  • Differential diagnosis excluded Vitamin D-dependent rickets, which shares some clinical similarities.
  • The patient's condition was refractory to previous treatments.

Implications:

  • Accurate diagnosis of APL is essential for appropriate patient management.
  • It helps avoid misdiagnosis as alopecia universalis and unnecessary treatments like systemic steroids.
  • Understanding the genetic basis of APL aids in genetic counseling and future therapeutic strategies.