← All decks
Dermatology
ENZYME DEFICIENCY DISEASES
Built from Dermatology, 5th Edition
What’s inside
4 sections · 167 slides
Overview
- What this topic covers
Enzyme Deficiency Diseases
Inherited metabolic disorders in which a missing enzyme lets a substance build up and damage the skin and other organs
- What an enzyme deficiency disease is
- Alkaptonuria: what goes wrong
- Alkaptonuria: clinical features
- Clinical features of alkaptonuria
- Alkaptonuria: diagnosis and treatment
- Biotinidase and holocarboxylase synthetase deficiencies
- Biotin deficiencies: skin and other features
- Biotin deficiencies: diagnosis and treatment
- Fabry disease: what goes wrong
- Fabry disease: early clinical features
- Fabry disease: angiokeratomas
- Angiokeratomas of Fabry disease
- Angiokeratomas of Fabry disease, bathing-trunk distribution
- Fabry disease: organ involvement over time
- Clinical features of Fabry disease and fucosidosis
- Fabry disease: diagnosis and treatment
- Angiokeratoma corporis diffusum: more than just Fabry disease
- Inherited metabolic disorders associated with angiokeratoma corporis diffusum
- Inherited metabolic disorders associated with angiokeratoma corporis diffusum (continued)
- Fucosidosis
- Fucosidosis: diagnosis and treatment
- Gaucher disease: what goes wrong
- Gaucher disease type 1
- Gaucher disease types 2 and 3
- Gaucher disease: diagnosis and treatment
- Hartnup disease: what goes wrong
- Hartnup disease: clinical features
- Hartnup disease: diagnosis and treatment
- Mitochondrial disorders: what goes wrong
- How a respiratory chain defect reaches the skin
- Mitochondrial disorders: common features
- Cutaneous manifestations of mitochondrial respiratory chain disorders
- Mitochondrial disorders: diagnosis and treatment
- Acid sphingomyelinase deficiency (Niemann-Pick disease)
- Niemann-Pick disease: types B and C, and skin findings
- Niemann-Pick disease: diagnosis and treatment
- Phenylketonuria: what goes wrong
- Phenylketonuria: skin and body clues
- Phenylketonuria with sclerodermoid skin changes
- Phenylketonuria: screening and treatment
- Enzyme deficiency diseases: key takeaways
Premature Aging Syndromes and Poikilodermas
Rare genetic disorders that accelerate aging, and what they teach us about normal aging
- Progeroid syndromes: the big picture
- Facial poikiloderma in Rothmund-Thomson syndrome
- Comparing the progeroid syndromes
- Hutchinson–Gilford progeria syndrome: clinical profile
- Hutchinson–Gilford progeria syndrome: clinical profile (continued)
- Werner syndrome: clinical profile
- Werner syndrome: clinical profile (continued)
- MDPL syndrome: clinical profile
- MDPL syndrome: clinical profile (continued)
- Penttinen syndrome: clinical profile
- Penttinen syndrome: clinical profile (continued)
- Néstor–Guillermo progeria syndrome: clinical profile
- Néstor–Guillermo progeria syndrome: clinical profile (continued)
- Acrogeria (Gottron syndrome) : clinical profile
- Acrogeria (Gottron syndrome) : clinical profile (continued)
- Metageria: clinical profile
- Metageria: clinical profile (continued)
- Kindler syndrome (see Ch. 32 ): clinical profile
- Kindler syndrome (see Ch. 32 ): clinical profile (continued)
- Cockayne syndrome (see Ch. 87 ): clinical profile
- Cockayne syndrome (see Ch. 87 ): clinical profile (continued)
- Rothmund–Thomson syndrome (see Ch. 87 ): clinical profile
- Rothmund–Thomson syndrome (see Ch. 87 ): clinical profile (continued)
- Poikiloderma with neutropenia, Clericuzio type (“Navajo poikiloderma”): clinical profile
- Poikiloderma with neutropenia, Clericuzio type (“Navajo poikiloderma”): clinical profile (continued)
- Hutchinson-Gilford progeria syndrome (HGPS): overview
- HGPS: the LMNA gene mutation
- Pathogenesis of Hutchinson-Gilford progeria syndrome
- HGPS: from progerin to premature aging
- HGPS: early growth and skin changes
- HGPS: face, hair, nails, and teeth
- HGPS: skeleton and prognosis
- HGPS: other findings, diagnosis, differential diagnosis
- HGPS: treatment
- HGPS: emerging therapies
- LMNA and the nuclear envelope: one gene, many diseases
- Nuclear envelopathies: disorder and inheritance
- Nuclear envelopathies: disorder and inheritance (continued)
- Nuclear envelopathies: disorder and inheritance (continued)
- Werner syndrome: overview
- Werner syndrome: mechanism
- Werner syndrome: growth and face
- Werner syndrome facial features
- Werner syndrome: skin and ulcers
- Werner syndrome: other systems and cancer risk
- HGPS versus Werner syndrome
- Werner syndrome: diagnosis and look-alikes
- Werner syndrome: treatment
- Premature aging syndromes: key takeaways
Ectodermal Dysplasias
Genetic disorders of the structures that all develop from the embryo's ectoderm: hair, teeth, nails, and sweat glands
- Ectodermal dysplasias: definition
- The four ectodermal structures
- Ectodermal dysplasias: classification and pathways
- Classic ectodermal dysplasias at a glance
- Hypohidrotic ED : clinical profile
- Hypohidrotic ED–immune deficiency: clinical profile
- Hidrotic ED: clinical profile
- Witkop tooth and nail syndrome: clinical profile
- Hypohidrotic ectodermal dysplasia: overview
- Hypohidrotic ED: the ectodysplasin pathway
- The ectodysplasin signal transduction pathway
- Hypohidrotic ED: newborn and skin findings
- Male patients with hypohidrotic ectodermal dysplasia
- Male patients with hypohidrotic ectodermal dysplasia, additional views
- Hypohidrotic ED: teeth, face, and other features
- Female X-linked carriers: three patterns
- Female patients with X-linked hypohidrotic ectodermal dysplasia
- Hypohidrotic ED: pathology and differential diagnosis
- Hypohidrotic ED: treatment
- Hypohidrotic ED with immune deficiency (HED-ID): overview
- HED-ID: clinical features
- HED-ID: immune problems and treatment
- Hidrotic ectodermal dysplasia (Clouston syndrome): overview
- Hidrotic ED: clinical features
- Hidrotic ectodermal dysplasia (Clouston syndrome)
- Hidrotic ED: pathology, differential diagnosis, treatment
- Witkop tooth and nail syndrome
- Witkop tooth and nail syndrome: teeth and genetics
- Witkop tooth and nail syndrome
- AEC syndrome: overview
- AEC syndrome: skin at birth
- Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
- AEC syndrome: healing pattern and eye/ear findings
- AEC syndrome: clefting and other features
- AEC syndrome: pathology, differential diagnosis, treatment
- EEC syndrome: overview
- Where the p63 mutation sits decides the syndrome
- EEC syndrome: ectodermal and eye/ear features
- Ectodermal dysplasia-ectrodactyly-clefting syndrome
- EEC syndrome: ectrodactyly and internal anomalies
- EEC syndrome: differential diagnosis and treatment
- p63-related ectodermal dysplasia syndromes at a glance
- AEC : clinical profile
- EEC: clinical profile
- Limb–mammary: clinical profile
- ADULT: clinical profile
- Other ectodermal dysplasias with a known molecular basis
- Tricho-dento-osseous syndrome: clinical profile
- Ellis–van Creveld syndrome: clinical profile
- Cranioectodermal dysplasia (Sensenbrenner syndrome): clinical profile
- Nectinopathies: cleft lip/palate ED (CLPED), ED-syndactyly (EDS): clinical profile
- ED, ectrodactyly and macular dystrophy (EEM): clinical profile
- Odonto-onycho-dermal dysplasia : clinical profile
- Pure hair–nail type ED: clinical profile
- Ectodermal dysplasias: key takeaways
- Overall takeaways
- References
- References (continued)
- References (continued)
- References (continued)
- References (continued)
- References (continued)
- References (continued)
- References (continued)
- References (continued)
- References (continued)
- References (continued)
- References (continued)
- References (continued)
- References (continued)
- References (continued)
- References (continued)
- References (continued)
- References (continued)
- References (continued)
- Dermatology, 5th Edition (2-Volume Set)