Hypertrichosis, atrophic skin, ectropion, and
Less than 10 cases have been reported since 1982.
Defective regulation or mutation of an
unspecified gene may be responsible for this condition and for the
ablepharon-macrostomia syndrome (AMS). Whether Barber-Say Syndrome is a
totally separate entity or part of a clinical spectrum that includes the AMS,
The exact mechanism resulting in abnormal
development of the skin and its related structures remains to be determined.
Clinical features. Characteristic signs of Barber-Say
syndrome that distinguish it from AMS include bilateral ectropion and
generalized hypertrichosis already present at birth. Skin biopsy shows a
decreased number of elastic fibers with hypocollagenosis, atrophic
epidermis, hyperkeratosis, and a thin reticular layer of dermis.
The syndrome is characterized by hypertrichosis
and an unusual face with absent or sparse eyebrows, ocular hypertelorism,
ocular telecanthus, and bilateral ectropion, or even absent eyelids. The
nasal bridge is broad and the nostrils are anteverted. Macrostomia, thin
lips, high-arched, narrow palate, and micrognathia and retrognathia.
Dentition is normal, but tooth eruption may be delayed. Abnormal ear conchae
with small or atretic external auditory meatus. Audiometry and auditory
brainstem reflexes are normal. The chest is large with widely spaced,
hypoplastic, inverted, or even absent nipples. Hypoplasia of mammary glands
and labia minora may occur. Abnormal laxity of the skin. Mild retardation of
psychomotor development with reduced or normal IQ has been reported.
Abdominal, renal, and cardiac ultrasound examination are normal. Results of
hematologic, endocrinologic, and radiologic examinations usually are
Venous access may be difficult
because of the laxity and redundancy of the skin. Airway assessment
(retrognathia/micrognathia and high-arched, narrow palate). Anticholinergic
premedication may be advisable in the case of expected difficult airway
If difficult airway management is
anticipated, an inhalational induction or awake fiberoptic tracheal
intubation should be considered. Simple eye ointment for eye protection
should be administered to both eyes to prevent corneal damage during
No specific pharmacological
Ablepharon-Macrostomia Syndrome (AMS): Extremely rare congenital
dysmorphic syndrome with predominantly facial anomalies. Heart, kidney
and liver anomalies are also common.
Barber N, Say B, Bell RF, et al: Macrostomia, ectropion, atrophic skin,
hypertrichosis, and growth retardation. Syndr Ident 8:6, 1982.
Mazzanti L, Bergamaschi R, Neri I, et al: Barber-Say syndrome: Report of a
new case. Am J Med Genet
Sod R, Izbizky G, Cohen-Salama M: Macrostomia, hypertelorism, atrophic skin,
severe hypertrichosis without ectropion: Milder form of Barber-Say syndrome.
Am J Med Genet