Raynaud’s disease – face and mucous membranes
Rook
p.2091, 1998, Sixth Edition
Spider telangiectasias (nevus araneus) – childhood,
liver disease, actinic damage
Rook p.2096–2097, 1998,
Sixth Edition; Pediatrics 33:227–232, 1964
Sunburst varicosities and telangiectasia (arborizing
telangiectasia) – thighs and calves
J Derm Surg Oncol
15:184–190, 1989
Unilateral nevoid telangiectasia
JAAD 37:523–549, 1997;
JAAD 8:468–477, 1983
Varicose veins
Rook p.2091, 1998, Sixth Edition
Vascular malformations
TONGUE, ENLARGED
(MACROGLOSSIA)
TRUE MACROGLOSSIA
TRUE MACROGLOSSIA – primary muscular hypertrophy of the
tongue (when histologic findings correlate with clinical evidence
of an enlarged tongue)
Ped Derm 20:361–363, 2003; Plastic
and Reconstructive Surgery 78:715–723, 1986; Laryngoscope
86:291–296, 1976; Arch Otolaryngol 93:378–383, 1971
CONGENITAL
Angelman syndrome (‘happy puppet syndrome’)
Acta Paediatr
Scand 73:398–402, 1984
Angioma
Rook p.3117, 1998, Sixth Edition
Beckwith–Wiedemann syndrome (exomphalos–
macroglossia–gigantism) (EMG) syndrome – autosomal
dominant; zosteriform rash at birth, exomphalos, macroglossia
(rhabdomyomas), hemihypertrophy of muscle fibers,
visceromegaly, facial salmon patch of forehead, upper eyelids,
nose, and upper lip and gigantism; linear earlobe grooves,
circular depressions of helices; increased risk of Wilms’ tumor,
adrenal carcinoma, hepatoblastoma, and rhabdomyosarcoma
JAAD 37:523–549, 1997; Am J Dis Child 122:515–519, 1971
Congenital macroglossal angiodysplasia
(lymphangioendotheliomatosis)
Arch Pathol Lab Med
124:1349–1351, 2000
Congenital macroglossia – autosomal dominant
Genet Couns
5:151–154, 1994
Cornelia de Lange syndrome
Costello syndrome
JAAD 32:904–907, 1995
Cretinism (congenital hypothyroidism) – coarse facial features,
lethargy, macroglossia, cold dry skin, livedo, umbilical hernia,
poor muscle tone, coarse scalp hair, synophrys, no pubic or
axillary hair at puberty
Rook p.2708, 3119, 1998, Sixth Edition
Dermoid cyst, including sublingual dermoid
Br J Oral Maxillofac
Surg 37:58–60, 1999; Oral Surg Oral Med Oral Pathol
50:217–218, 1980
Diffuse angiomatosis
Arch Otolaryng 93:83–89, 1971
Down’s syndrome (trisomy 21)
Rook p.3117, 1998,
Sixth Edition; J Laryngol Otol 104:494–496, 1990
Ehlers–Danlos syndrome
Ellis–van Creveld syndrome – hypertrophied frenulum
J Am Dent Assoc 77:1090–1095, 1968
Endocrine disorders
Textbook of Neonatal Dermatology,
p.480, 2001
Fibrous hamartoma
Int J Pediatr Otorhinolaryngol 33:171–178,
1995
Fucosidosis type II
Glycogen storage disease
Textbook of Neonatal Dermatology,
p.480, 2001
GM1 gangliosidosis type I – X-linked – gingival hypertrophy,
macroglossia, coarse facies, micrognathia, loose skin, inguinal
hernia, delayed growth, hepatosplenomegaly, neonatal
hypotonia, delayed motor development
Ped Derm 18:534–536,
2001; Syndromes of the Head and Neck, p.118, 1990
Goldenhaar syndrome (oculo-auriculo-vertebral syndrome) –
macroglossia, preauricular tags, abnormal pinnae, facial
asymmetry, macrostomia, epibulbar dermoids, facial weakness,
central nervous system, renal, and skeletal anomalies
Granular cell tumor
Textbook of Neonatal Dermatology, p.480,
2001
Hemangiolymphangiomas
Hemangiomas
Head Neck Surg 9:299–304, 1987
Hemihyperplasia (congenital hemihypertrophy)
Am J Dis Child
120:372–373, 1970
Hereditary angioedema – of retropharyngeal space in an adult
Am J Otolaryngol 20:136–138, 1999
Hereditary gelsolin amyloidosis (AGel amyloidosis) – cutis laxa,
corneal lattice dystrophy, cranial and peripheral polyneuropathy
BJD 152:250–257, 2005
Hunter’s syndrome (decreased sulfoiduronate sulfatase) –
macroglossia; reticulated 2–10-mm skin-colored papules over
scapulae, chest, neck, arms; X-linked recessive; MPS type II;
iduronate-2 sulfatase deficiency; lysosomal accumulation of
heparin sulfate and dermatan sulfate; short stature, full lips,
coarse facies, clear corneas (unlike Hurler’s syndrome),
progressive neurodegeneration, communicating hydrocephalus,
valvular and ischemic heart disease, lower respiratory tract
infections, adenotonsillar hypertrophy, otitis media, obstructive
sleep apnea, diarrhea, hepatosplenomegaly, skeletal deformities
(dysostosis multiplex), widely spaced teeth, dolichocephaly,
deafness, retinal degeneration, inguinal and umbilical hernias
Ped Derm 21:679–681, 2004; Ped Derm 15:370–373, 1998;
Syndromes of the Head and Neck, p.101, 1990
Hunter’s polydystrophy
Int J Pediatr Otorhinolaryngol
44:273–278, 1998; Laryngoscope 97:280–285, 1987
Hurler’s syndrome
Acta Anaestheiol Sin 37:93–96, 1999
Klippel–Trenaunay–Weber syndrome – hemihypertrophy
Oral Surg Oral Med Oral Pathol 63:208–215, 1987; Ann DV
114:665–669, 1987; Rev Stomatol Chir Maxillofac 87:320–326,
1986
Lingual cyst – recurrent swelling in adult
J Oral Maxillofac Surg
59:908–912, 2001
Lingual tonsil
Int J Pediatr Otorhinolaryngol 53:63–66, 2000; Am
J Forensic Med Pathol 14:158–161, 1993
Lingual thyroid
Thyroid 10:511–514, 2000
Lymphangiomas
Oto Head Neck Surg 2001, April p.477–478
Lymphatic malformation
J Pediatr Surg 31:1648–1650, 1996
Malignant oncocytoma – base of tongue
J Otorhinolaryngol
Relat Spec 62:104–108, 2000
Mannosidosis – autosomal recessive; gingival hypertrophy,
macroglossia, coarse features, prognathism, thick eyebrows, low
anterior hairline, deafness, lens opacities, hepatosplenomegaly,
recurrent repiratory tract infections, muscular hypotonia, mental
retardation
Ped Derm 18:534–536, 2001
Mucopolysaccharidoses (Hurler’s, Hurler–Schei, Sanfilippo,
Morquio, Maroteaux–Lamy, Sly syndromes)
Rook p.2624–2625,
1998, Sixth Edition; Syndromes of the Head and Neck, p.113,
1990
Multiple endocrine neoplasia syndrome – type 2b
Int J Oral
Maxillofac Surg 21:110–114, 1992
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