Dr Afna K
Characteristic facies-an index of the disease
Reading face is an art. In the medical context, facies are distinctive facial expressions associated with specific medical conditions. Here, we have compiled a list of characteristic facies that can aid in diagnosing many diseases and syndromes
Acrogeric face is seen in type IV Ehlers–Danlos syndrome.
These patients, even at a young age, appear prematurely aged.
The face has a pinched appearance with prominent eyes, thin nose, thin lips, and lobeless ears.
It is characterized by
- generalized expansion of the skull at the fontanelle,
- pronounced brow protrusion, often with ocular distension,
- pronounced lower jaw protrusion with macroglossia and gaping teeth.
- Such patients also presents with hypertrichosis, hyperpigmentation, hyperhidrosis, enlargement of the hands, feet, nose, lips, ears and a generalized thickening of the skin.[
ADENOID FACIES ( long face syndrome )
Adenoid facies is the long, open-mouthed and dumb expression on faces of children with adenoid hypertrophy.
- underdeveloped thin nostrils
- short upper lip,
- prominent upper teeth, crowded teeth,
- narrow upper alveolus
- high-arched palate and hypo-plastic maxilla.
- Adenoid facies can be part of Cowden syndrome
In tuberculoid leprosy, the involvement of facial nerves produces a blank expression described as antonine faciesm.
ASIATIC PORCELAIN DOLL FACIES
It is characterized by
- tight skin,
- sparse or absent eyelashes,
- a fixed facial expression,
- blurring of groove between nose and cheek, micrognathia,
- mouth in the “O” position,
- rigid and tense skin with erosions and denudations
- multiple joint contractures.
It is seen in restrictive dermopathy
Restrictive dermopathy (RD)
- is one of the lethal forms of autosomal recessive skin dysplasia.
- characterized by rigid or thick skin involving the entire body,
- dysmorphic facies,
- arthrogryposis multiplex and
- pulmonary hypoplasia.
It is a rare disorder and only few cases have been reported in the literature
In childhood atopic dermatitis,
- the cheeks are quite pale,
- periocular darkening with dry, slightly scaly skin surface and
- quite a characteristic facial appearance.
- The most typical clinical changes in atopic dermatitis are seen around the eyes and together with the pallor and dryness mentioned above gives rise to a characteristic set of features known as atopic facies.
- A popular term for facial dysmorphia, characterized by
- high-arched cleft palate,
Bird-like facies may appear alone or
in association with
- Hallermann–Streiff syndrome,
- familial partial lypodystrophy,
- and Hutchinson–Gilford progeria.
BULL DOG FACE
- seen in congenital syphilis ( as a result of local effect of syphilitic rhinitis on the development of adjacent structures.)
Because the maxilla is small, the normal mandible appears proportionately longer and bigger resulting in bull dog-like jaw.
Human immunodeficiency virus (HIV) patients who are on highly active antiretroviral therapy (HAART) may develop a cachectic facies.
- peripheral lipoatrophy with loss of subcutaneous facial fat, particularly buccal, parotid, and preauricular fat pads
- resulting in prominent zygomata, sunken eyes, deepened and redundant melolabial folds,
Cigarette face is characterized by pale, grey, wrinkled skin with rather gaunt features, so that heavy smokers can often be recognized from their facial appearance alone.[
Coarse facial features or coarse facies describes a constellation of facial features that are present in many inborn errors of metabolism. Features include: large, bulging head. prominent scalp veins. “saddle-like, flat bridged nose with broad, fleshy tip“ due to premature fusion of skull bones
Seen conditions like hyper-IgE syndrome, multiple sulphatase deficiency, Costello’s syndrome, and galactosialidosis
Dengue fever is accompanied by the dengue facies characterized by flushing, palpebral edema, conjunctival injection, retroocular pain, and photophobia. As the symptoms abate, a morbiliform or scarlatiniform rash appears.
It is seen in congenital hypertrichosis lanuginose. In this condition, most of the body is covered with fine, blond or nonpigmented hair at birth. These hair may reach up to 10 cms and often blend with the darker, terminal hairs of the scalp and/or eyebrows. Whorls of hair may be noted around the sacrum, preauricular region and pinnae
This is described in patients of DIGEORGE SYNDROME who have low-set, abnormally formed ears, hypertelorism, antimongoloid slant, micrognathia, short philtrum to the upper lip, higharched palate, palatal abnormalities like cleft palate, and velopharyngeal insufficiency
ELFIN FACIES : associated with Williams syndrome
Williams syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by mild to moderate intellectual disability or learning problems, unique personality characteristics, distinctive facial features, and heart and blood vessel (cardiovascular) problems
The deletion occurs at the time of conception. It is likely that the elastin genedeletion accounts for many of the physical features of Williams syndrome. Some medical and developmental problems are probably caused by deletions of additional genetic material near the elastin gene on chromosome #7.
Seen in hurlers syndrome
Gargoylism is characterized by thickening and coarsening of facial features due to subcutaneous deposition of mucopolysaccharides.
- The head is large and dolichocephalic
- frontal bossing and prominent sagittal and frontal sutures,
- depressed nasal bridge, flared nares
- a prominent lower third, thickened facies,
- widely spaced teeth with attenuated dental enamel,
- gingival hyperplasia
Rare hereditary and congenital metabolical disease characterized by dwarfism, hunchback, coarse (gargoyle like) facies, mental retardation, clouding of the cornea and sensorineural deafness, hepatosplenomegaly, noisy respiration, cardiac abnormalities, and enlarged tongue. There is a protuberant abdomen, umbilical and inguinal hernias, coronary artery thickening, angina pectoris, decreased joint mobility and frequent chest infections.
In progressive systemic sclerosis, appearance of the face is characteristic. The forehead is smooth and cannot be wrinkled and atrophy and tightening of the skin gives a characteristic appearance due to fixed stare, pinched nose, prominent teeth, pursed lips, reduced oral aperture and a perpetual grimace-like facies
It is characterized by a pinched expression of the face with sunken eyes, relaxed lips, and hollow cheeks and temples, as observed in one dying after an exhausting illness.
Leonine facies is a facies that resembles that of a lion. It is seen in multiple conditions and has been classically described for Lepromatous leprosy as well as Paget’s disease of bone.
Chronic actinic dermatitis, cutis verticis gyrata, leishmaniasis, lymphoma, leukemia, mycosis fungoides, multicentric reticulohistiocytosis, multiple keratoacanthoma syndrome , progressive nodular histiocytoma, sarcoidosis, scleromyxedema
An immobile, expressionless face with staring eyes and slightly open mouth. It is sometimes associated with Parkinsonism or psychiatric conditions and scleroderma (scleroderma mask)
MICKEY MOUSE FACIES
Children with Cockayne’s syndrome are short and look cachectic. Weight is affected more than height; hence, it is termed “cachectic dwarfism.” Microcephaly and cachectic look give them “Mickeymouse like” facies
MONGOLOID FACE/FLAT FACIES
In Down’s syndrome, the characteristic facial features include flat facial profile,hypertelorism, Mongoloid slant, epicanthal folds, Brushfield spots on the iris, lowset ears, saddle nose, narrow, short, high-arched palate, smaller teeth, and scrotal tongue
Marasmus patients have a wrinkled, loose and dry skin. There is a substantial loss of subcutaneous fat tissue and the facial expression is described as “monkey facies” due to the loss of the buccal adipose tissue
People with moon facies have round, full or puffy face. The sides the face may become so round from the buildup of fat that ears cannot be seen from the front. Fat deposits in the sides of the skull can also make the face look rounder. It is seen in Kwashiorkor, Cushing’s syndrome and patients on steroid treatment
Progeroid type of Ehler Danlos syndrome patients show triangular, old-looking face with a beak shaped or pinched nose, pseudohydrocephalus, wide fontanelles, prominent veins, especially, of the scalp and sparse scalp hair. They also have a distinct pattern of lipodystrophy involving subcutaneous fat loss from the face, extremities, paravertebral and lateral gluteal regions.
SLAPPED CHEEK FACIES
In erythema infectiosum, diffuse erythema and edema of the cheeks gives “slapped cheek”
FACES OF HOMEOPATHIC MEDICINE
Face old, pale, wrinkled In children with marasmus, head weak, cannot hold it up. skin is flabby and hangs loose in folds
Face pale, waxy ,Marasmus and other wasting diseases of childrepale, lean persons with lax, flabby muscles;
An expression of great anxiety and pain, with a drawn condition and well-marked linea nasalia.Herpetic eruption on end of the nose.
“Adenoids with enlarged tonsils;
The countenance is expressive of fear; Full plethoric habit dark hair and eyes,
An expression of great anxiety and pain, with a drawn condition and well-marked linea nasalia.-Features expressive of pain and anxiety. Herpetic eruption on end of the nose.
Face flushes at the slightest emotion (Coca, Fer.). – Blushing : chronic or acute; –
Collar seems too tight, must loosen it
Face pale blue and covered with cold sweat Tongue coated pasty thick white
Withered, dried-up, old-looking patients
Emaciation, progressing every year; most marked in lower extremities (Am. m.); marasmus.
Nervous women, sanguine plethoric persons, lively expression and very red face. Conjunctival or retinal hemorrhage with extravasation of blood from injuries or cough
Anxious face with fastidious look, nose pointed
Constant picking at the nose until it bleeds; boring with the finger into the side of the nose.
– Pick lips until they bleed; corners of mouth sore, cracked, bleeding (with malignant tendency, Cund.); bites nails until fingers bleed.
– Patients pick and bore into the raw bleeding surfaces though very painful; scream with pain but keep up the boring
AURUM MET : Knobby tip of nose.
BISMUTHUM : Face deathly pale blue rings around face
BORAX : Red nose of young women
Pale, earthy, with suffering expression. With pimples on nose and lips.
Feeling of cobwebs.(brom, baryt carb,graph)
CALCAREA : Moon facies
CARBO VEG : Hippocratic face,very pale ,greyish yelloww,geernish cold with cold sweat
CINCHONA : Face pale, hippocratic; eyes sunken and surrounded by blue margins; pale, sickly expression as after excesses;
CHAMOMILLA : One cheek red and hot, other pale and cold
CINA : Face is pale; sickly white and bluish appearance around mouth; sickly with dark rings under the eyes; one cheek red, the other pale
DIGITALIS : Face pale death like appearance and bluish red
Complexion pale, dirty; unhealthy; sallow, with deep furrows, looks older than he is; fan-like motion of alae nasi
OPIUM : Marasmus; child with wrinkled skin, looks like a little dried up old man
NAT CARB : Face pale with deep blue rings around the eyes,eyelds swollen
SEPIA : indifferent face
PLUMBUM MET : Pale, ash-colored, yellow, corpse-like, cheeks sunken; expressive of great anxiety and suffering.
Skin of face, greasy, shiny (nat m,sanic)
PULSATLLA : Weeping lady
SULPHUR : Untidy philosphical