China
Africa
Explore chapters and articles related to this topic
Milroy Disease
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Differential diagnoses for Milroy disease (“woody” swelling of the dorsum of the feet with few associated features) include microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR; autosomal dominant condition due to KIF11 mutation), VEGFC-related lymphedema (VEGFC mutations), Turner syndrome (short stature, stature disproportion, primary amenorrhea, neck webbing, congenital lymphedema of the hands and feet, high-arched palate, short metacarpals, scoliosis, Madelung deformity, hearing difficulties, cardiac and renal anomalies, hypothyroidism, glucose intolerance, and extremity lymphedema that improves over time; females with one normal X chromosome and either absence of the second sex chromosome [X or Y] with or without mosaicism or partial deletion of the X chromosome), Noonan syndrome (short stature, congenital heart defect, and developmental delay of variable degree; broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, and characteristic facies; varied coagulation defects and lymphatic dysplasias; pulmonary valve stenosis, often with dysplasia, in 20%–50% of individuals; hypertrophic cardiomyopathy in 20%–30% of individuals; congenital lymphedema of the feet and legs with lower-limb and genital edema, chylous reflux, intestinal lymphangiectasia, or chylothoraxes; autosomal dominant disorder due to pathogenic variants in PTPN11 in 50% of affected individuals, SOS1 in approximately 13%, RAF1 in 3%–17%, KRAS in <5%, NRAS, BRAF, and MAP2K1 in <1%), hypotrichosis-lymphedema-telangiectasia syndrome (childhood-onset lymphedema in the lower limbs, loss of hair, and telangiectasia, particularly on the palms; autosomal dominant or autosomal recessive disorder due to pathogenic variants in SOX18), lymphedema-distichiasis syndrome (lower-limb lymphedema typically in late childhood or puberty; edema and cellulitis often in males; distichiasis or aberrant eyelashes arising from the Meibomian glands ranging from a full set of extra eyelashes to a single hair at birth in 94% of affected individuals; corneal irritation, recurrent conjunctivitis, and photophobia in 75% of patients due to aberrant eyelashes; early-onset varicose veins 50%, congenital heart disease 7%, and ptosis 30%; asymptomatic in 25%; autosomal dominant disorder to FOXC2 pathogenic variants), Meige disease (pubertal-onset lymphedema; autosomal dominant disorder with reduced penetrance), lymphedema with yellow nails (yellow nail syndrome; very slow growing, nails with transverse over-curvature and hardening of the nail plate; after age 50 years autosomal dominant disorder), deep venous thrombosis, lipedema, obesity, injury, rheumatologic disease, vascular malformations, malignancy, and infection [1,23].
A new perspective in oculoplastic surgical management of symptomatic distichiasis in lymphedema-distichiasis syndrome
Published in Orbit, 2019
Twishaa Sheth, Michelle Attzs, Katya Tambe
Lymphedema-distichiasis syndrome (LDS), is a rare autosomal dominant condition, composed of lymphedema and distichiasis. It is associated with the FOXC2 gene with over 50 varying mutations accounting for the loss or gain of protein function.1–3 The lymphedema is typically of the lower limb with a variable age of onset, whereas the distichiasis can range from a little as a few lashes on one tarsal plate, to all four tarsal plates being affected with extra lashes.2,4 Distichiasis is observed in 94% of affected individuals, with ocular complications in 75% of those affected.4 Treatment for the distichiasis is varied with no definitive first-line surgical approach; the most common form of treatment being epilation or cryotherapy and lid split in more severe cases however other techniques such as eyelash trephination have shown some success.5 We describe a novel surgical technique in the treatment of congenital distichiasis.
A new surgical technique for congenital distichiasis
Published in Orbit, 2018
Alicia Galindo-Ferreiro, Hind Alkatan, Azza Maktabi, Alberto Gálvez-Ruiz, Silvana Schellini
In this case series presents a novel surgical procedure for treating congenital distichiasis. Two patients were negative for genetic testing for lymphedema-distichiasis syndrome. Cases 2 and 3 were siblings, with an affected father and another brother. Notably, the manifestation of the disease was different in both siblings, with case 2 presenting with all lids affected and case 3 with only one affected lid.