Book Syndrome

A rare form of ectodermal dysplasia with premolar aplasia, hyperhidrosis, premature cavities, and premature whitening of the hair.

Premolar Aplasia, Hyperhidrosis, and Premature Cavities Syndrome; PHC Syndrome.

Extremely rare.

Autosomal dominant with high penetrance.

Unknown, but PHC syndrome belongs to the heterogeneous group of ectodermal dysplasias that includes more than 150 diseases with various inheritance modes and genetic heterogenicity. In ectodermal dysplasia, the initial factor seems to be a perturbation of epithelial morphogenesis.

Premature whitening of the hair with characteristic dental defects and a family with similar history.

Dental affection is the most frequent sign. Anodontia or oligodontia can affect all teeth, but missing premolars are the most characteristic. Abnormal dental position and tooth shape anomaly may be observed. Premature whitening of hair can appear even in childhood and may be associated with poorly formed dermatoglyphs and distal digital creases. Increased sweating of the hands and feet are very frequent (hyperhidrosis).

No other disorders are associated with this particular syndrome. However, because of a mild depression of the immune system and a defect in the respiratory mucous glands, other forms of ectodermal dysplasia often show a predisposition to respiratory tract infections, which are potentially life-threatening. No such reports exist specifically for this syndrome, but nevertheless should be kept in mind when assessing the patient. Evaluate dental position, aspect, and mobility, and severity of hyperhidrosis.

No reports of anesthetic experience with these patients are available. Patients may present for surgical management of hyperhidrosis. Extremity lesions can interfere with pulse oximetry. Direct laryngoscopy must be done very carefully considering the dental anomalies.

Hyperhidrosis must be evaluated before use of parasympatholytic drugs (flush, hyperthermia more frequent with atropine).

Far more than 100 different forms of ectodermal dysplasia are known; only a few are mentioned here to show the wide variety of this entity.

Rapp-Hodgkin Hypohidrotic Ectodermal Dysplasias: Autosomal dominant inherited anhidrotic ectodermal dysplasia with cleft lip/palate, hypodontia, hair anomalies and alopecia in adulthood, and nail anomalies.

Christ-Siemens-Touraine Syndrome: Inherited disease characterized by absence of sweat glands (anhidrosis, distorted heat regulation), and sebaceous glands (xerosis), hypotrichosis, poor dental development, and facial abnormalities (prominent forehead, thick lips, saddle nose).

Psaume Syndrome (Orofaciodigital Syndrome Type I): A syndrome with X-linked dominant transmission or sporadic (75%) occurrence with oral (tongue and dental anomalies, cleft lip/palate), facial (hypertelorism, telecanthus, micrognathia), digital (brachydactyly, syndactyly, duplication of hallux), cerebral (cerebellar atrophy, agenesis of the corpus callosum, Dandy-Walker malformation, mild mental retardation), and renal anomalies (polycystic kidney disease). Almost all affected patients are females, although some affected males have been reported.

Ellis-van Creveld Syndrome: Autosomal recessive inherited syndrome with congenital cardiac defects, pulmonary hypoplasia because of a small chest, dwarfism, polydactyly, nail dystrophy, and dystonias.

Clouston Syndrome (Ectodermal Dysplasias): Autosomal dominant ectodermal dysplasia characterized by the triad of palmoplantar hyperkeratosis, nail dystrophy, and alopecia. Facial appearance, teeth, and sweating are normal.

Incontinentia Pigmenti: X-linked dominant genodermatosis with skin pigmentation changes that are often associated with ocular, dental, central nervous abnormalities and 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 cell carcinomas.

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 disorder presenting with curly hairs, hypoplastic nails, and eyelid fusion.

Oculodentodigital Syndrome: Ectodermal dysplasia with autosomal dominant inheritance characterized by mental retardation, microcephaly, microphthalmia, glaucoma, enamel hypoplasia, syndactyly, camptodactyly, and hypotrichosis.

Pachyonychia Congenita (Jadassohn-Lewandowsky Syndrome) (focal [nummular] type of Keratosis Palmaris et Plantaris: Overview): Genetic disorder with 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-Schulz-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.

Monilethrix: Genetic effect limited to the hair and occasionally the skin but does not belong to the group of ectodermal dysplasias.

Tricho-Dento-Osseous (TDO) Syndrome: Features of this autosomal dominant inherited disorder are enamel hypoplasia and hypocalcification, combined with curly, dry hair. Clinically very similar but genetically slightly different is the amelogenesis imperfecta, hypomaturation-hypoplasia-type with taurodontism syndrome. The dental changes seen in this syndrome are identical to those found in trichodento-osseous syndrome, but hair changes and osteosclerosis are absent.

Tricho-Rhino-Phalangeal Dysplasia type II: Most often autosomal dominant inherited syndrome with mental retardation, microencephaly, multiple exostoses, musculoskeletal dysplasia, and redundant skin.

Xeroderma, Talipes, and Enamel Defect Syndrome: Ectodermal dysplasia combined with congenital heart disease.

Odontotrichomelic Syndrome: Genetic syndrome with anomalies of limbs, ears, eyes, and ectodermal structures.

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 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 the enamel). Other organ systems reportedly are not affected; in particular, mental retardation has not been described as a feature of this disease.

Onychotrichodysplasia with Neutropenia: Extremely rare disorder caused by an autosomal recessive mutation. Clinical signs 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. The 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 infections.