Related Experiment Video
Updated: Feb 15, 2026
11:52
Isolation of Basal Cells and Submucosal Gland Duct Cells from Mouse Trachea
Published on: September 14, 2012
14.9K
Pediatric nevoid basal cell carcinoma syndrome
Stacey Pilkington1, Lana H McKinley2, Richard A Miller2
1Azeal Dermatology Institute, Boulder, Colorado, USA.
Cutis
|January 24, 2018
Summary
Nevoid basal cell carcinoma syndrome (NBCCS) is a rare genetic disorder. This case study details a pediatric patient with NBCCS, emphasizing treatment considerations for darker skin types.
Area of Science:
- Dermatology
- Genetics
- Oncology
Background:
- Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal-dominant disorder characterized by multiple basal cell carcinomas (BCCs), odontogenic keratocysts, and other developmental abnormalities.
- Early diagnosis and management are crucial for improving patient outcomes and preventing complications associated with NBCCS.
Observation:
- A case report of an 11-year-old boy with Fitzpatrick skin type V presenting with multiple facial lesions and a history of maxillary keratocysts.
- Clinical examination revealed multiple pigmented basal cell carcinomas, palmoplantar pits, and calcification of the tentorium.
- Skin biopsy confirmed pigmented basal cell carcinoma.
Findings:
- Genetic testing identified a heterozygous mutation in the patched 1 (PTCH1) gene, confirming the diagnosis of NBCCS.
- The patient's presentation highlights the variability of NBCCS manifestations, particularly in pediatric patients with darker skin types.
Implications:
- This case underscores the importance of considering NBCCS in pediatric patients with characteristic skin and developmental findings, irrespective of skin type.
- It emphasizes the need for tailored treatment strategies for pediatric NBCCS patients, especially those with Fitzpatrick skin type V, to address potential complications and optimize management.
- Further research into the specific clinical course and treatment responses of NBCCS in diverse populations is warranted.
Related Concept Videos
00:55Laminins are the Adhesive Proteins of Basal Lamina
3.4K
Laminins are heterotrimeric proteins with high molecular mass found in the extracellular matrix. Each laminin molecule is composed of three chains, viz. alpha, beta, and gamma, coded by five, four, and three paralogous genes, respectively. Laminins are categories based on the compositions of the three chains.
In humans, the five forms of alpha chains are LAMA 1, LAMA 2, LAMA 3, LAMA 4, and LAMA 5. The four forms of beta chains are LAMB 1, LAMB 2, LAMB 3, and LAMB 4. The three forms of gamma...
In humans, the five forms of alpha chains are LAMA 1, LAMA 2, LAMA 3, LAMA 4, and LAMA 5. The four forms of beta chains are LAMB 1, LAMB 2, LAMB 3, and LAMB 4. The three forms of gamma...
3.4K
01:03Basal Lamina are the Specialized Form of ECM
3.9K
The basal lamina is a thin extracellular layer that lies underneath the cells and separates them from other tissues. The three layers of the basal lamina are lamina lucida, lamina densa and lamina reticularis. The basal lamina, a mixture of glycoproteins and collagen, provides an attachment site for the epithelium, separating it from underlying connective tissue. The framework of basal lamina has other essential proteins such as laminins mesh, perlecan, entactin, and type IV collagen.
Proteins...
Proteins...
3.9K
01:05Type IV Collagen of Basal Lamina
3.1K
Type IV collagen is a 400 nm long, network-forming collagen that acts as a barrier between the epithelial and endothelial cells. Type IV collagen forms the backbone of the basement membrane by scaffolding with laminin, entactin, proteoglycans, and fibronectin. Apart from rendering structural support to the basement membrane, it also helps entail signaling potentials necessary for both pathological and physiological functions.
A type IV collagen molecule has six alpha chains which can...
A type IV collagen molecule has six alpha chains which can...
3.1K
01:26Pharmacokinetics in Pediatric Patients: Drug Excretion
281
In pediatric medicine, understanding the renal function and drug elimination nuances is crucial for administering safe and effective treatments. Newborns, in particular, display markedly slower renal functions than adults, profoundly affecting how drugs are cleared from their bodies. This slower drug clearance requires clinicians to extend the dosing intervals for many medications to prevent drug accumulation and toxicity while ensuring therapeutic efficacy.One key area where these adjustments...
281
01:24Nephrotic Syndrome I : Introduction
702
Nephrotic Syndrome is a chronic kidney disorder defined by clinical findings such as severe proteinuria, hypoalbuminemia, hyperlipidemia, and edema. These symptoms result from damage to the glomeruli, the kidney’s filtering units, increasing their permeability to proteins.Definition and Meaning:Proteinuria, defined as the loss of more than 3.5 grams of protein per day in adults, is a crucial feature of nephrotic syndrome. This condition is often accompanied by edema, the accumulation of...
702
01:17Pharmacokinetics in Pediatric Patients: Drug Distribution
334
Drug distribution in the pediatric population exhibits unique challenges and considerations due to the physiological differences between children, particularly neonates and infants, and adults. A crucial aspect of pediatric pharmacology is understanding how these differences impact the pharmacokinetics of various drugs, necessitating age-specific dosing strategies to ensure efficacy and safety.Neonates and infants have a higher total body water content, ~75%–90% of their body weight,...
334