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Dermatology
Heritable Disorders of Connective Tissue
Built from Dermatology, 5th Edition
What’s inside
6 sections · 137 slides
Overview
- What this topic covers
- The skin's scaffolding: collagen and elastic fibers
- Three main heritable connective tissue disorders
- Where these fit among genetic connective tissue diseases
Ehlers-Danlos Syndrome
A group of collagen disorders causing fragile, hyperextensible skin
- Key features
- History
- How EDS classification has evolved
- How common is EDS
- Collagen: the body's main structural protein
- Collagen biosynthesis, secretion, and fibril assembly
- Two ways a collagen mutation causes disease
- Dominant-negative mutations
- Haploinsufficiency
- Vascular EDS: type III collagen
- Classical EDS: type V collagen
- Arthrochalasia and dermatosparaxis EDS
- Kyphoscoliotic EDS
- Rarer EDS subtypes: other mechanisms
- General skin findings across EDS
- Clinical features of Ehlers-Danlos syndrome
- Atrophic scar in classical EDS
- Molluscoid pseudotumors on the knees
- Classical EDS
- Hypermobile EDS
- Vascular EDS
- Typical facial features of vascular EDS
- Rarer EDS subtypes: clinical picture
- Extensive bruising in dermatosparaxis EDS
- The 2017 EDS classification
- 2017 International classification of Ehlers-Danlos syndrome
- 2017 International classification of Ehlers-Danlos syndrome (continued)
- 2017 International classification of Ehlers-Danlos syndrome (continued)
- 2017 International classification of Ehlers-Danlos syndrome (continued)
- 2017 International classification of Ehlers-Danlos syndrome (continued)
- 2017 International classification of Ehlers-Danlos syndrome (continued) (continued)
- Approach to the patient with presumed Ehlers-Danlos syndrome
- Screening for joint hypermobility
- Five-point joint hypermobility questionnaire
- Pathology and laboratory findings
- Telling EDS apart from look-alikes
- EDS versus Marfan syndrome, side by side
- Comparison of selected clinical features in Ehlers-Danlos syndrome and Marfan syndrome
- Comparison of selected clinical features in Ehlers-Danlos syndrome and Marfan syndrome (continued)
- General treatment: protecting the skin
- Vascular EDS: managing the biggest risks
Pseudoxanthoma Elasticum
Calcified elastic fibers in the skin, eyes, and blood vessels
- Key features
- History
- Who gets PXE
- ABCC6: the liver pump behind PXE
- Impaired inhibition of ectopic mineralization in pseudoxanthoma elasticum
- From ABCC6 loss to calcified tissue
- Related PPi deficiency disorders
- Surviving infants with ENPP1 mutations
- The classic skin change: 'cobblestone' plaques
- Clinical features of pseudoxanthoma elasticum
- PXE plaques in the antecubital fossa and neck
- When calcification advances
- Mucosal lesions
- Mucosal lesions of pseudoxanthoma elasticum
- A second example of mucosal PXE
- Angioid streaks: the classic eye finding
- Funduscopic findings in pseudoxanthoma elasticum
- Other ocular clues
- Cardiovascular involvement
- The GGCX phenotype
- Histology: seeing the calcium
- Histopathology of pseudoxanthoma elasticum
- Diseases that mimic PXE skin lesions
- Differential diagnosis of pseudoxanthoma elasticum
- Differential diagnosis of pseudoxanthoma elasticum (continued)
- Differential diagnosis of pseudoxanthoma elasticum (continued)
- Drug- and disease-related look-alikes
- Diagnostic criteria for PXE
- Proposed diagnostic criteria for pseudoxanthoma elasticum (2014)
- Proposed diagnostic criteria for pseudoxanthoma elasticum (2014) (continued)
- Proposed diagnostic criteria for pseudoxanthoma elasticum (2014) (continued)
- Managing PXE takes a team
- A multidisciplinary approach to management of pseudoxanthoma elasticum
- A multidisciplinary approach to management of pseudoxanthoma elasticum (continued)
- A multidisciplinary approach to management of pseudoxanthoma elasticum (continued)
- Treatments under investigation
Cutis Laxa
Loose, sagging skin from sparse or broken elastic fibers
- Key features
- History
- Who gets cutis laxa
- Elastin gene mutations: the dominant form
- Autosomal recessive cutis laxa: structural genes
- Autosomal recessive cutis laxa: metabolic genes
- Two broad mechanisms behind cutis laxa
- Acquired cutis laxa: breaking down existing fibers
- D-penicillamine: a drug that blocks elastin repair
- The full spectrum of heritable cutis laxa
- Heritable forms of cutis laxa and related conditions
- Heritable forms of cutis laxa and related conditions (continued)
- Heritable forms of cutis laxa and related conditions (continued)
- Heritable forms of cutis laxa and related conditions (continued)
- Heritable forms of cutis laxa and related conditions (continued) (continued)
- Heritable forms of cutis laxa and related conditions (continued) (continued)
- Heritable forms of cutis laxa and related conditions (continued)
- Heritable forms of cutis laxa and related conditions (continued) (continued)
- Heritable forms of cutis laxa and related conditions (continued) (continued)
- The look of cutis laxa
- Clinical features in cutis laxa
- Acral cutis laxa
- Idiopathic acral localized acquired cutis laxa
- What can trigger acquired cutis laxa
- Acquired cutis laxa: associated conditions
- Acquired cutis laxa: associated conditions (continued)
- Acquired cutis laxa: associated conditions (continued)
- Marshall syndrome and localized forms
- The 'Michelin tire baby' -- a look-alike, not true CL
- 'Michelin tire baby' phenotype
- Pathology of cutis laxa
- Histologic features of cutis laxa
- Telling cutis laxa apart from its mimics
- Treatment
Other Heritable Disorders of the ECM
Marfan syndrome, homocystinuria, osteogenesis imperfecta, and Buschke-Ollendorff syndrome
- Beyond EDS, PXE, and cutis laxa
- Additional heritable disorders of connective tissue with cutaneous findings
- Additional heritable disorders of connective tissue with cutaneous findings (continued)
- Additional heritable disorders of connective tissue with cutaneous findings (continued)
- Additional heritable disorders of connective tissue with cutaneous findings (continued)
- Quick distinguishing notes
Putting It Together
How to recognize and separate these connective tissue disorders
- Quick clinical clues
- Quick mechanism clues
- Why this chapter matters
- References
- References (continued 2/12)
- References (continued 3/12)
- References (continued 4/12)
- References (continued 5/12)
- References (continued 6/12)
- References (continued 7/12)
- References (continued 8/12)
- References (continued 9/12)
- References (continued 10/12)
- References (continued 11/12)
- References (continued 12/12)
- Dermatology, 5th Edition (2-Volume Set)