44 Focal Dermal Hypoplasia Syndrome
Focal dermal hypoplasia, FDH, Goltz syndrome, Goltz-Gorlin syndrome
Body asymmetry, skin atrophy and linear hyperpig- mentation, multiple mucosal papillomas, herniation of subcutaneous fat, anomalies of eyes, teeth, and digits
Frequency: Rare (over 250 published cases).
Genetics
X-linked dominant (OMIM 305600); most cases spo- radic with only about 10% occurring in males (near- ly all cases in males are new mutations); gene locus at Xp22.31; proposed somatic mutation with functional X mosaicism to explain the variable phenotype in different tissues.
Clinical Features
• Focal dermal hypoplasia (present at birth in 15%), poikiloderma, angiofibromatous nodules, hernia- tions of subcutaneous fat (heterotopic fat?), skin nodules, streaky hyperpigmentation, telangiectasia
• Sparse, brittle hair (30%)
• Facial and/or skull asymmetry
• Microphthalmia (15%); coloboma of iris, choroid, retina, and optic nerve (40%); strabismus (15%);
unilateral anophthalmia, corneal opacifications, ectopia lentis, aniridia
• Notching of alae nasi, deviation of septum
• Papillomas of lips, gums, tongue, and perioral skin (40–50%); papillomas in the axillae, periumbilical area, anogenital and inguinal regions (50–60%)
• Hypodontia, hypoplastic enamel
• Pointed chin
• Syndactyly (75%), brachydactyly (60%), postaxial polydactyly, camptodactyly, oligodactyly (45%), adactyly, lobster-claw hand
• Dysplastic and/or absent nails of fingers and toes (50%)
• Mental retardation, usually mild (15%); mixed hearing loss; myelomeningocele, hydrocephalus, agenesis of corpus callosum, Arnold-Chiari mal- formation
Differential Diagnosis
• Incontinentia pigmenti syndrome
• Rothmund-Thomson syndrome
Radiographic Features Extremities
• Syndactyly, brachydactyly, oligodactyly, polydac- tyly, lobster-claw hand
• Shortened metacarpals, metatarsal and phalanges
• Foot deformities
• Asymmetrical extremities, limb hemimelia Teeth
• Microdontia, oligodontia, deformed teeth, retard- ed eruption, malocclusion
Skull
• Microcephaly
• Asymmetrical hypoplasia of craniofacial skeleton
• Steep clivus Spine
• Scoliosis (25%)
• Vertebral malsegmentation
• Spina bifida occulta (7%) Chest
• Hypoplastic ribs, bifurcated ribs
• Hypoplasia/aplasia of (right) clavicle Pelvis
• Small pelvis
• Hip dislocation Generalized Bone Defects
• Osteopenia
• Multiple bone lesions, e.g., giant-cell tumors of bone, exostoses
• Osteopathia striata
Focal Dermal Hypoplasia Syndrome 708
Fig. 44.1. Patient 1, newborn. Syndactyly between fingers 2 and 3, and complete fusion of fingers 3 and 4, resulting in one enlarged finger with a single nail. (Courtesy of Dr. M. Paradisi, IDI Institute, Rome, Italy)
Focal Dermal Hypoplasia Syndrome 709
Fig. 44.2 a, b. Patient 2, age 5 months. Asymmetrical lower limbs, streaky hyperpigmented skin, with ulcers. Left foot with absent
F
toes 3 and 4 and small papillomas on other toes. (Reprinted, with permission, from Mastroiacovo et al. 1990)
Fig. 44.3. Patient 3, adult. Nodules consisting of herniated sub- cutaneous fat. (Reprinted, with permission, from Mastroiaco- vo et al. 1990)
a b
Fig. 44.4. Patient 4, age 4 years. Note rib bifurcation and rib hypoplasia
Bibliography
Giam YC, Khoo BP. What syndrome is this? Focal dermal hypoplasia (Goltz syndrome). Pediatr Dermatol 1998; 15:
399–402
Goltz RW. Focal dermal hypoplasia syndrome: an update. Arch Dermatol 1992; 128: 1108–11
Gorlin RJ, Meskin LH, Peterson WC, Goltz RW. Focal dermal hypoplasia syndrome.Acta Derm Venereol 1963; 43: 421–40 Hall EH, Terezhalmy GT. Focal dermal hypoplasia syndrome.
Case report and literature review. J Am Acad Dermatol 1983; 9: 443–51
Happle R, Lenz W. Striation of bones in focal dermal hypopla- sia: manifestations of functional mosaicsm? Br J Dermatol 1977; 96: 133–8
Mastroiacovo P, Dallapiccola B,Andria G, Camera G, Lungarot- ti MS. Difetti congeniti e sindromi malformative. McGraw- Hill, Milan, 1990
Naritomi K, Izumikawa Y, Nagataki S, Fukushima Y, Wakui K, Niikawa N, Hirayama K. Combined Goltz and Aicardi syn- dromes in a terminal Xp deletion: are they a contiguous gene syndrome? Am J Med Genet 1992; 43: 839–43 Ruiz-Maldonado R, Carnevale A, Tamayo L, de Montiel EM.
Focal dermal hypoplasia. Clin Genet 1974; 6: 36–45 Temple IK, McDowall P, Baraitser M, Atherton DJ. Focal dermal
hypoplasia (Goltz syndrome). J Med Genet 1990; 27: 180–7 Focal Dermal Hypoplasia Syndrome
710
Fig. 44.5. Patient 4, age 4 years.
The iliac bones are relatively small, with mild flaring of iliac wings. Note vertical striations of the femoral necks, and coxa valga
Fig. 44.6. Patient 4, age 4 years. There is striking osteopathia striata within distal femurs and proximal tibias
Focal Dermal Hypoplasia Syndrome 711
F
a b
c
Fig. 44.7 a–c. Patient 4, age 4 years. a, b Note slen- der long bones in forearms with vertical meta- physeal striations, irregular shortening of tubular bones in hands, and soft tissue syndactyly be- tween fingers 3 and 4. c higher magnification of b
Fig. 44.8. Patient 4, age 4 years.
Irregular shortening and deformi- ty of tubular bones in feet, hallux valgus, and striking osteoporosis
