Autosomal dominant ectodermal dysplasia characterized
by the triad of palmoplantar hyperkeratosis, nail dystrophy, and alopecia.
Facial appearance, teeth, and sweating are normal.
Nail dystrophy and hyperkeratotic skin changes in a patient with
Fischer-Jacobsen-Clouston Syndrome; Hidrotic Ectodermal
Unknown. A higher incidence has been reported in the
French Canadian population, but it occurs in all ethnicities.
Autosomal dominant. The defect has been linked
Abnormality in the molecular structure of keratin
seems to be responsible for the disease.
Based on the typical clinical features and family
In contrast to the X-linked form of ectodermal
dysplasia (anhidrotic ectodermal dysplasia), most of the affected patients
have normal sweat and sebaceous glands, and the teeth are usually only mildly
affected (in contrast to the first description by Clouston). However, as in
other forms of ectodermal dysplasia, the patients suffer from severe
dystrophy of nails (thickened, striated, very slow growing, often
discolored) and hair (resulting in total alopecia, sometimes in infancy but
usually after puberty). Ultrastructural analysis of the hair shows an
altered organization of hair fibrils with loss of the cuticular cortex
suggesting a biochemical defect in the keratin of the integumentary system.
Skin changes include palmoplantar hyperkeratosis, which can involve the
periungual area and result in thickening of the fingertips with the aspect
of clubbing. Skin hyperpigmentation is common over the joints.
Precautions before Anesthesia
Although no specific reports for
this disease exist, because of mild depression of the immune system and
hypoplasia/absence of the respiratory mucus glands, other forms of
ectodermal dysplasia are often associated with a predisposition to
respiratory tract infections, which can be life-threatening. Although no
such reports exist specifically for this syndrome, it should be kept in mind
when assessing the patient.
Altered heat regulation does not seem to be
a problem in these patients because sweat glands are functional. Direct
laryngoscopy and tracheal intubation may be difficult because of maxillary
and/or mandibular abnormalities. Because of hypoplasia/absence of mucous
glands in the respiratory tract, humidified air should be used for general
anesthesia and in the postanesthesia care unit.
No adverse drug reactions specific
for this disease have been reported.
Other Conditions to Be Considered
Incontinentia Pigmenti: X-linked, dominant genodermatosis with
skin pigmentation changes that are often associated with ocular, dental, and
central nervous abnormalities and with malignancies (Wilms tumor,
retinoblastoma, myeloid leukemia, rhabdomyosarcoma).
Ectrodactyly, Ectodermal Dysplasia, and Clefting (EEC) Syndrome:
Autosomal dominant inherited anomaly complex characterized by ectrodactyly of hands and feet,
ectodermal dysplasia, and cleft lip/palate.
Gorlin-Goltz Syndrome: Autosomal dominant transmitted
neurocutaneous syndrome characterized by facial, skin, and skeletal
abnormalities and later (usually after puberty) occurrence of multiple basal
Setleis Syndrome: Characterized by an aged leonine face with
absent or multiple rows of eyelashes, redundant facial soft tissue, and
rubbery feel to facial skin. Characteristic bitemporal skin marks and
association with imperforate anus.
CHANDS: Autosomal recessive inherited form of ectodermal
dysplasia associated with ankyloblepharon.
Christ-Siemens-Touraine Syndrome: Heterogeneous genetic disorder
caused by abnormal development of the ectodermal tissue and characterized by
the association of hypohidrosis, hypotrichosis, defective dentition,
peculiar facies, abnormal thermoregulation, and exocrine gland
Oculodentodigital Syndrome: Ectodermal dysplasia with autosomal
dominant inheritance characterized by mental retardation, microcephaly,
microphthalmia, glaucoma, enamel hypoplasia, syndactyly and camptodactyly,
Pachyonychia Congenita (Jadassohn-Lewandowsky Syndrome;
Jackson-Lawler Type of Pachyonychia Congenita; Schaffer-Brunauer Syndrome
(with steatocystoma multiplex); Nonepidermolytic Palmoplantar Keratoderma):
Onychogryposis, hyperkeratosis of the palms, soles, knees, and elbows. Tiny
cutaneous horns in many areas and leukoplakia of the oral mucosa.
Craniodiaphyseal Dysplasia: Bone disorder characterized by marked
hyperostosis of the craniofacial bones and diaphyseal expansion of the
tubular bones resulting in significant clinical complications.
Schopf-Schultz-Passarge Syndrome: Autosomal recessive inherited
keratosis palmoplantaris with cystic eyelids, hypodontia, and hypotrichosis.
Increased frequency of tumors of exocrine glands.
Carnevale-Hernandez-Castillotorres Syndrome: Extremely rare syndrome
characterized by triphalangeal thumbs, brachy (syn)dactyly, and occasionally
ectrodactyly of the feet and hands.
Trichodento-osseous Syndrome: Autosomal dominant inherited
disorder featuring enamel hypoplasia and hypocalcification, combined with
curly, dry hair.
Amelogenesis Imperfecta, Hypomaturation-Hypoplasia-Type with
Taurodontism Syndrome: Clinically very similar to the trichodento-osseous
syndrome. The dental changes are identical to those found in
trichodento-osseous syndrome but without hair changes and osteosclerosis;
however, it is reported to be genetically different.
Xeroderma, Talipes, and Enamel Defect Syndrome: Extremely rare,
autosomal dominant inherited form of ectodermal dysplasia is characterized
by xeroderma, talipes, and tooth enamel defects. Further signs include
growth and mild mental retardation, congenital mitral stenosis, cleft
palate, absent eyelashes of the lower lid, short-lasting skin vesicles,
reduced number of sweat glands associated with hypohidrosis, and increased
Onychotrichodysplasia with Neutropenia: Clinical signs of this
extremely rare disorder, which is caused by an autosomal recessive mutation,
include onychotrichodysplasia, chronic neutropenia, and mild mental
retardation. However, patients with normal intelligence have been reported.
Trichorrhexis nodosa with bamboo-like appearance of the hair results in
brittle hair. Chronic neutropenia may be part of the so-called lazy
leukocyte syndrome. No case reports related to anesthesia have been found,
but strict asepsis seems mandatory in the perioperative care to prevent
Odontotrichomelic Syndrome: Autosomal recessive inherited,
extremely rare syndrome presents most often with severe absence deformities
of all four extremities, abnormal teeth, hypoplastic nipples, malformation
of the ears, absent or decreased eyelashes and eyebrows, and hypotrichosis.
Other less frequent signs include nail anomalies, hypogonadism, thyroid
enlargement and dysfunction, cleft lip, ECG and EEG abnormalities, and
growth and mental retardation. Increased concentrations of tyrosine and/or
tryptophane in the urine were reported.
Tooth and Nail Syndrome: Rare autosomal dominant ectodermal
dysplasia characterized by defects of the nail plates of the fingers
(onychorrhexis) and toes (koilonychia). Familial hypodontia with normal hair
and sweat gland function.
Naegeli Ectodermal Dysplasia (Naegeli Franceschetti Jadassohn
Syndrome): Autosomal dominant inherited disease, which is limited to the
ectoderm (hypohidrosis, palmoplantar keratoderma, lack of dermatoglyphics
[fingerprint lines], characteristic reticular hyperpigmentation on neck,
chest, and abdomen, onychodystrophy and yellowish spots on their enamel).
Other organ systems have not been reported to be affected; mental
retardation particularly is not a feature of this disease.
Tricho-Rhino-Phalangeal Dysplasia: Most often autosomal dominant
inherited syndrome with mental retardation, microencephaly, multiple
exostoses, musculoskeletal dysplasia, and redundant skin.
Monilethrix: Although the symptoms of these syndromes may
resemble ectodermal dysplasia, it is suggested that monilethrix does not
belong to this group. It is an autosomal dominant disorder characterized by
a beaded appearance (because of periodic narrowing of the shaft) of the
scalp hair as a result of periodic thinning of the shaft. The cause of this
disease seems to be a mutation in the genes responsible for the hair
keratin, which has been mapped to 12q13. Phenotypically, this results in
breakage of the hair (brittle, dry, lusterless look) and patchy alopecia.
Onset usually is in infancy, and symptoms may ameliorate to a certain degree
after puberty and during pregnancy.