Palmoplantar Keratodermas Flashcards
What are the two broad types of palmoplantar keratodermas?
Diffuse versus Focal
What are the diffuse palmoplantar keratodermas?
Unna Thost, Vömer, Mal de Meleda, Gleiter, Mutilating (Vohwinkel), Papillon-Lefèvre, Naxos disease
What are the focal palmoplantar keratodermas?
Striate type/Areata type, Richner-Hanhart syndrome, Pachyonychia, Carvajal Syndrome, Howel-Evans syndrome
What is the inheritance pattern and genes involved in Unna-Thost diffuse plmoplantar keratoderma?
KRT1, KRT6c
AD
What is “transgrediens” in the setting of palmoplantar keratodermas?
A rare, isolated, diffuse palmoplantar keratoderma disorder characterized by red-yellow, moderate to severe hyperkeratosis of the palms and soles, extending to the dorsal aspects of the hands, feet and/or wrists and involving the skin over the Achilles’ tendon (transgrediens)
What is the age of onset for Unna-Thost palmoplantar keratoderma?
2-5 years sometimes later
Does transgrediens occur in Unna-Thost palmoplantar keratoderma?
No
What is the most common type of diffuse palmoplantar keratoderma?
The Vörner or epidermolytic PPK
Clinical appearance of Unna-Thost (Nonepidermolytic PPK)?
Diffuse, well-demarcated PPK w/ yellow hue; hyperhidrosis Histology w/ prominent orthokeratosis
What are the genes involved and the mode of inheritance for Vörner/epidermolytic PPK?
Keratin 1/Keratin 9 (KRT1/KRT9)
AD
Does Vörner/epidermolytic PPK have transgrediens?
No
Clinical features of Vörner/epidermolytic PPK?
Clinically identical to diffuse nonepidermolytic PPK, but histology shows epidermolytic hyperkeratosis
What is the mode of inheritance and gene involved in Mal de Meleda PPK?
SLURP-1
AR
Clinical features of Mal de Meleda PPK?
Atopic dermatitis
- Transgradiens PPK erythematous w/ fissures/hyperhidrosis/maceration/ bad odor/often infected
- Dystrophic nails
Does Mal de Meleda have transgrediens?
Yes
What is the Greither form of PPK?
Gene: KRT1 (in some families)
Other name: Transgrediens and Progrediens PPK
AD
What are the mode of inheritance and genes involved in mutilating (Vohwinkel) PPK?
LOR (+ ichthyosis) and GJB2 (+ deafness)
AD
Does mutilating (Vohwinkel) PPK have transgrediens?
Yes
Clinical features of mutilating (Vohwinkel) PPK?
Honeycombed palmar PPK, pseudoainhum (esp. fifth finger – constriction bands leads to autoamputation), starfish keratoses on the knuckles/ feet/elbows/knees, linear keratoses on elbows/knees, sensorineural deafness (Cx26), and generalized ichthyosis (loricrin)
What is the inheritance pattern and gene of Papillon-Lefèvre syndrome?
CTSC
AR
Does Papillon- Lefèvre syndrome/PPK w/ periodontitis have transgrediens?
Yes, diffuse
What are the clinical features of Papillon- Lefèvre syndrome/PPK w/ periodontitis?
Transgradiens PPK w/ erythema/hyperhidrosis/terrible odor (soles > palms)
- Pyogenic infections
- Periodontitis/gingivitis leading to premature loss of teeth, psoriasiform lesions on elbows/ knees, and pyogenic infections
- Dural calcification
What is the inheritance pattern and genes involved in Naxos disease (Diffuse NEPPK w/ wooly hair and cardiomyopathy)?
JUP (encodes plakoglobin)
AR
Clinical features of Naxos disease/Diffuse NEPPK w/ wooly hair and cardiomyopathy?
Woolly hair; arrhythmias and right ventricular cardiomyopathy (versus Carvajal syndrome) develop during adolescence
Does Naxos syndrome have transgrediens?
No
Do any of the focal PPK’s have transgrediens?
No
What is the inheritance pattern and genes involved in Striate type of focal PPK?
DSG1
AD
Clinical features of both the striate and areata type of focal PPK?
Striate on palms and islands on feet, presentation can be variable
What genes are involved in the areata type of focal PPK?
DSP (desmoplakin), KRT1, KRT16, and KRT6c
What is the inheritance and gene involved in the Richner-Hanhart syndrome?
TAT (Tyrosine amino-transferase)
AR
What is the timeline for clinical progression of Richner- Hanhart syndrome?
Infancy: ocular dz
Early childhood/adolescence: skin
Clinical findings in Richner- Hanhart syndrome?
Focal painful PPK on weight-bearing areas
- Dendritic keratitis, corneal ulcers, and blindness (ocular findings prior to skin findings)
- Hyperkeratosis of elbows/knees
- Mental retardation
What are the genes involved and the inheritance pattern in pachyonychia congenita?
KRT16, KRT6a, KRT17, KRT6b
What are the two types of pachyonychia congenita?
PC1, Jadassohn- Lewandowsky type
C2, Jackson- Lawler type
What are the clinical findings in pachyonychia congenita?
PC1: more severe NEPPK
PC2: steatocystoma multiplex and eruptive vellus hair cysts more common. Also has natal teeth
What is the mode of inheritance and the gene involved in Carvajal syndrome?
DSP (desmoplakin)
AR>AD
What are the clinical features of Carvajal syndrome?
Woolly hair; dilated left ventricular cardiomyopathy (variable onset)
- Can occasionally have skin fragility, nail dystrophy, hypodontia
What is the mode of inheritance and gene involved in Howel-Evans syndrome?
RHBDF2/IRHOM2
AD
Clinical features in Howel-Evans syndrome?
Thick yellow PPK on weight-bearing areas (heels and balls of feet) starting in the second decade
- A significant risk for development of esophageal cancer in the third to the fifth decade
What is the other name for Howel-Evans syndrome?
Tylosis with esophageal cancer
