Congenital lymphedema

Congenital lymphedema is swelling that results from abnormalities in the lymphatic system that are present from birth. Swelling may be present in a single affected limb, several limbs, genitalia, or the face. It is sometimes diagnosed prenatally by a nuchal scan or post-natally by lymphoscintigraphy. A hereditary form of congenital lymphedema is called Milroy's disease and is caused by mutations in the VEGFR3 gene.^[1] Congenital lymphedema is frequently syndromic and is associated with Turner syndrome, Lymphedema-distichiasis syndrome, yellow nail syndrome, and Klippel-Trénaunay-Weber syndrome.^[2] In some cases, the condition can sometimes be associated with congenital heart defect, among other things.^[3]

References

↑ Liem TK, Moneta GL. Chapter 24. Venous and Lymphatic Disease. In: Brunicardi FC, Andersen DK, Billiar TR, Dunn DL, Hunter JG, Matthews JB, Pollock RE, eds. Schwartz's Principles of Surgery. 9th ed. New York: McGraw-Hill; 2010. http://www.accessmedicine.com/content.aspx?aID=5014541.
↑ Boon LM, Vikkula M. Chapter 172. Vascular Malformations. In: Goldsmith LA, Katz SI, Gilchrest BA, Paller AS, Leffell DJ, Dallas NA, eds. Fitzpatrick's Dermatology in General Medicine. 8th ed. New York: McGraw-Hill; 2012.
↑ "Relationship Between Nuchal Translucency Thickness and Prevalence of Major Cardiac Defects in Fetuses With Normal Karyotype", by Atzei, A; Gajewska, K; Huggon, I C.; Allan, L; Nicolaides, K H. Obstetrical and Gynecological Survey. January 2006. Volume 61, Issue 1, pages 8-10.

Congenital malformations and deformations of integument / skin disease (Q80–Q82, 757.0–757.3)

Genodermatosis

Congenital ichthyosis/
erythrokeratodermia

AD	Ichthyosis vulgaris

AR	Congenital ichthyosiform erythroderma: Epidermolytic hyperkeratosis Lamellar ichthyosis Harlequin type ichthyosis Netherton syndrome Zunich–Kaye syndrome Sjögren–Larsson syndrome

XR	X-linked ichthyosis

Ungrouped	Ichthyosis bullosa of Siemens Ichthyosis follicularis Ichthyosis prematurity syndrome Ichthyosis–sclerosing cholangitis syndrome Nonbullous congenital ichthyosiform erythroderma Ichthyosis linearis circumflexa Ichthyosis hystrix

EB
and related

EBS
- EBS-K
- EBS-WC
- EBS-DM
- EBS-OG
- EBS-MD
- EBS-MP

JEB
- JEB-H
- Mitis
- Generalized atrophic
- JEB-PA

DEB
- DDEB
- RDEB

Ectodermal dysplasia

Elastic/Connective

Ehlers–Danlos syndrome
Cutis laxa (Gerodermia osteodysplastica)
Popliteal pterygium syndrome
Pseudoxanthoma elasticum
Van Der Woude syndrome

Hyperkeratosis/
keratinopathy

PPK	diffuse: Diffuse epidermolytic palmoplantar keratoderma Diffuse nonepidermolytic palmoplantar keratoderma Palmoplantar keratoderma of Sybert Mal de Meleda syndromic connexin Bart–Pumphrey syndrome Clouston's hidrotic ectodermal dysplasia Vohwinkel syndrome Corneodermatoosseous syndrome plakoglobin Naxos syndrome Scleroatrophic syndrome of Huriez Olmsted syndrome Cathepsin C Papillon–Lefèvre syndrome Haim–Munk syndrome Camisa disease focal: Focal palmoplantar keratoderma with oral mucosal hyperkeratosis Focal palmoplantar and gingival keratosis Howel–Evans syndrome Pachyonychia congenita Pachyonychia congenita type I Pachyonychia congenita type II Striate palmoplantar keratoderma Tyrosinemia type II punctate: Acrokeratoelastoidosis of Costa Focal acral hyperkeratosis Keratosis punctata palmaris et plantaris Keratosis punctata of the palmar creases Schöpf–Schulz–Passarge syndrome Porokeratosis plantaris discreta Spiny keratoderma ungrouped: Palmoplantar keratoderma and spastic paraplegia desmoplakin Carvajal syndrome connexin Erythrokeratodermia variabilis HID/KID

Other	Meleda disease Keratosis pilaris ATP2A2 Darier's disease Dyskeratosis congenita Lelis syndrome Dyskeratosis congenita Keratolytic winter erythema Keratosis follicularis spinulosa decalvans Keratosis linearis with ichthyosis congenital and sclerosing keratoderma syndrome Keratosis pilaris atrophicans faciei Keratosis pilaris

Other

see also Template:Congenital malformations and deformations of skin appendages, Template:Phakomatoses, Template:Pigmentation disorders, Template:DNA replication and repair-deficiency disorder

Developmental
anomalies

Midline	Dermoid cyst Encephalocele Nasal glioma PHACE association Sinus pericranii

Nevus	Capillary hemangioma Port-wine stain Nevus flammeus nuchae

Other/ungrouped	Aplasia cutis congenita Amniotic band syndrome Branchial cyst Cavernous venous malformation Accessory nail of the fifth toe Bronchogenic cyst Congenital cartilaginous rest of the neck Congenital hypertrophy of the lateral fold of the hallux Congenital lip pit Congenital malformations of the dermatoglyphs Congenital preauricular fistula Congenital smooth muscle hamartoma Cystic lymphatic malformation Median raphe cyst Melanotic neuroectodermal tumor of infancy Mongolian spot Nasolacrimal duct cyst Omphalomesenteric duct cyst Poland anomaly Rapidly involuting congenital hemangioma Rosenthal–Kloepfer syndrome Skin dimple Superficial lymphatic malformation Thyroglossal duct cyst Verrucous vascular malformation Birthmark

Index of skin

Description	Anatomy Physiology connective tissue Development

Disease	Infections by morphology Vesiculobullous Dermatitis and eczema factitial Papulosquamous Urticaria and erythema Radiation-related Pigmentation Mucinoses Keratosis, ulcer, atrophy, and necrobiosis Vasculitis Fat Neutrophilic and eosinophilic Congenital Neoplasms and cancer nevi and melanomas epidermis dermis Symptoms and signs eponymous Terminology

Treatment	Procedures Drugs antibiotics disinfectants emollients and protectives itch psoriasis other Wound and ulcer

Lymphatic vessel disease (I88–I89, 457)

Lymphatic vessels

Lymphedema: Primary lymphedema
- Congenital lymphedema
- Lymphedema praecox
- Lymphedema tarda
- Lymphedema–distichiasis syndrome
- Milroy's disease
Secondary lymphedema
- Bullous lymphedema
- Factitial lymphedema
- Postinflammatory lymphedema
- Postmastectomy lymphangiosarcoma

Waldmann disease

Index of the circulatory system

Description	Anatomy Arteries head and neck arms chest abdomen legs Veins head and neck arms chest abdomen and pelvis legs Development Cells Physiology proteins

Disease	Congenital Neoplasms and cancer Lymphatic vessels Injury Vasculitis Other Symptoms and signs eponymous

Treatment	Procedures Drugs beta blockers channel blockers diuretics nonsympatholytic vasodilatory antihypertensives peripheral vasodilators renin–angiotensin system sympatholytic antihypertensives vasoprotectives

Pathology: hemodynamics

Decreases

Thrombus/thrombosis

Renal vein thrombosis

Ischemia

Infarction

general:	Anemic infarct Hemorrhagic infarct

regional:	Myocardial infarction Cerebral infarction Splenic infarction Limb infarction

Increases

Hemorrhage

general	Bruise/Hematoma Petechia Purpura Ecchymosis

regional	head Epistaxis Hemoptysis Intracranial hemorrhage Hyphema Subconjunctival hemorrhage torso Hemothorax Hemopericardium Pulmonary hematoma abdomen Gastrointestinal bleeding Haemobilia Hemoperitoneum Hematocele Hematosalpinx joint Hemarthrosis

Edema

general	Anasarca Angioedema/Lymphedema Exudate/Transudate

regional	Cerebral edema Pulmonary edema Hydrothorax Ascites/hydroperitoneum Hydrosalpinx

Other

Hyperemia

Congenital lymphedema

See also

References