Reticular pigmented anomaly of the flexures

(Redirected from Dowling–Degos disease) Medical condition

Reticular pigmented anomaly of the flexures
Other names	Kitamura reticulate acropigmentation
Specialty	Dermatology

Reticular pigmented anomaly of the flexures (also known as dark dot disease and Dowling–Degos disease) is a fibrous anomaly of the flexures or bending parts of the axillae, neck and inframammary/sternal areas. It is an autosomal-dominant pigmentary disorder that may appear in adolescence or adulthood. This condition is due to mutations in structural/desmosomal proteins found within stratified squamous epithelium.

Dark dot disease is associated with KRT5.

References

"Dowling-Degos disease | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 23 April 2019.
James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
Betz RC, Planko L, Eigelshoven S, et al. (March 2006). "Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease". Am. J. Hum. Genet. 78 (3): 510–9. doi:10.1086/500850. PMC 1380294. PMID 16465624.

External links

Classification	D OMIM: 179850 MeSH: C562924

Cytoskeletal defects

Microfilaments

Myofilament

Actin	Hypertrophic cardiomyopathy 11 Dilated cardiomyopathy 1AA DFNA20 Nemaline myopathy 3
Myosin	Elejalde syndrome Hypertrophic cardiomyopathy 1, 8, 10 Usher syndrome 1B Freeman–Sheldon syndrome DFN A3, 4, 11, 17, 22; B2, 30, 37, 48 May–Hegglin anomaly
Troponin	Hypertrophic cardiomyopathy 7, 2 Nemaline myopathy 4, 5
Tropomyosin	Hypertrophic cardiomyopathy 3 Nemaline myopathy 1
Titin	Hypertrophic cardiomyopathy 9

Other

1/2	Keratinopathy (keratosis, keratoderma, hyperkeratosis): KRT1 Striate palmoplantar keratoderma 3 Epidermolytic hyperkeratosis IHCM KRT2E (Ichthyosis bullosa of Siemens) KRT3 (Meesmann juvenile epithelial corneal dystrophy) KRT4 (White sponge nevus) KRT5 (Epidermolysis bullosa simplex) KRT8 (Familial cirrhosis) KRT10 (Epidermolytic hyperkeratosis) KRT12 (Meesmann juvenile epithelial corneal dystrophy) KRT13 (White sponge nevus) KRT14 (Epidermolysis bullosa simplex) KRT17 (Steatocystoma multiplex) KRT18 (Familial cirrhosis) KRT81/KRT83/KRT86 (Monilethrix) Naegeli–Franceschetti–Jadassohn syndrome Reticular pigmented anomaly of the flexures
3	Desmin: Desmin-related myofibrillar myopathy Dilated cardiomyopathy 1I GFAP: Alexander disease Peripherin: Amyotrophic lateral sclerosis
4	Neurofilament: Parkinson's disease Charcot–Marie–Tooth disease 1F, 2E Amyotrophic lateral sclerosis
5	Laminopathy: LMNA Mandibuloacral dysplasia Dunnigan Familial partial lipodystrophy Emery–Dreifuss muscular dystrophy 2 Limb-girdle muscular dystrophy 1B Charcot–Marie–Tooth disease 2B1 LMNB Barraquer–Simons syndrome LEMD3 Buschke–Ollendorff syndrome Osteopoikilosis LBR Pelger–Huet anomaly Hydrops-ectopic calcification-moth-eaten skeletal dysplasia

Microtubules

Kinesin	Charcot–Marie–Tooth disease 2A Hereditary spastic paraplegia 10
Dynein	Primary ciliary dyskinesia Short rib-polydactyly syndrome 3 Asphyxiating thoracic dysplasia 3
Other	Tauopathy Cavernous venous malformation

Membrane

Ankyrin: Long QT syndrome 4

Hereditary spherocytosis 1

Catenin

APC
- Gardner's syndrome
- Familial adenomatous polyposis
plakoglobin (Naxos syndrome)
GAN (Giant axonal neuropathy)

Other

centrosome: PCNT (Microcephalic osteodysplastic primordial dwarfism type II)

Related topics: Cytoskeletal proteins

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References

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