Goltz syndrome Q87.15

Rare clinical picture associated with cutaneous atrophy and aplasia as well as variable other malformations, often of the skeletal system, but also of the eyes, teeth and ears.

X-linked dominant inheritance with underlying mutations in the PORCN gene, which enables the cellular transport of Wnt proteins.

Always skin involvement: Lentil-sized, circumscribed atrophy and aplasia (see below aplasia cutis congenita) of the skin, confluent to form larger areas. Dermal hypoplasia with hernia-like protrusion of the fatty tissue is always present, but with varying degrees of severity. The overall picture is poikilodermatic, characterized by teleangiectatic, hypo- or hyperpigmented foci and mottled scarring.

Raspberry-like papillomas of the lips, oral mucosa, oesophagus and genitoanal mucosa (Blinkenberg EO et al. 2007).

Thinning scalp hair, foci with scarring alopecia, onychodystrophy, disorders of sweat secretion. Pigment abnormalities or pigmentation disorders, rarefied or missing eyebrows, tumors and cysts of the skin, dysplastic fingernails and toenails.

About 10 patients with a unilateral pattern of infestation have been described.

The association of angioma serpiginosum-like skin changes and Goltz syndrome has been described several times (Fernandez-Flores A et al. 2022; Tewari A et al. 2019).

Extracutaneous manifestations:

• Skeletal involvement (90% of cases): Syn- and polydactyly, hypo- and aplasia of fingers and toes, kyphosis, scoliosis, spina bifida, vertebral anomalies, malformations of the clavicles and ribs, longitudinal striation of the metaphyses of long tubular bones (osteopathia striata), skull anomalies.
• Dental anomalies
• Eye involvement in approx. 50% of cases: iris coloboma, microphthalmia, anophthalmia, strabismus, nystagmus, aniridia.
• Rare involvement of other organs: cardiac and renal malformations, auricular malformations, conductive hearing loss, possible mental retardation.

Nevus lipomatodes cutaneus superficialis

Incontinentia pigmenti, Bloch-Sulzberger type

Rothmund syndrome

Aplasia cutis congenita.

Extracutaneous manifestation: Dependent on the malformations of the respective organs --> corresponding co-care of the associated specialist discipline (orthopaedics, ophthalmology, etc.).

Almashaqbeh SS et al. (2022): In a one-year-old girl, multiple, asymptomatic, hypopigmented skin lesions on the trunk and extremities have been known since birth. At birth, linear erosions were detectable, which gradually healed within a few days and left behind peripheral hypopigmentation. Hyperpigmentation, abnormalities of the limbs and nails and delayed development were also found. There were also tooth enamel anomalies, partial anodontia in the lower jaw as well as sparse hair and focal alopecia (scalp, eyebrows and eyelashes).

1. Almashaqbeh SS et al (2022) Focal Dermal Hypoplasia with Osteopathia Striata. Med Arch 76:301-304.
2. Arias-Llorente RPet al.(2015) Focal Dermal Hypoplasia Due to De Novo Mutation c.1061T>C(p.Leu354Pro) in the PORCN Gene: Importance of Early Diagnosis and Multidisciplinary Follow-Up. Fetal Pediatr Pathol 34:375-382.
3. Blinkenberg EO et al. (2007) Angioma serpiginosum with oesophageal papillomatosis is an X-linked dominant condition that maps to Xp11.3-Xq12. Eur J Hum Genet 15:543-547.
4. Cole HN et al. (1941) Ectodermal and mesodermal dysplasia with osseous involvement. Arch Dermatol Syphil (Berlin) 44: 773-788
5. Fernandez-Flores A et al. (2022) Angioma-serpiginosum-like and hyperkeratotic lesions in a patient with Goltz syndrome. J Cutan Pathol 49:993-997.
6. Gorlin RJ, Goltz RW (1960) Multiple nevoid basal-cell epithelioma, jaw cysts and bifid rib: a syndrome. N Engl J Med 262: 908-912
7. Bostwick B et al. (2016) Phenotypic and molecular characterization of focal dermal hypoplasia in 18 individuals. Am J Med Genet C Semin Med Genet 172C:9-20.
8. Bree AFet al. (2016) Dermatologic findings of focal dermal hypoplasia (Goltz syndrome). Am J Med Genet C Semin Med Genet 172C:44-51.
9. Garavelli L et al.(2013) Focal dermal hypoplasia (Goltz-Gorlin syndrome): a new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomaly. Am J Med Genet A 161A(7):1750-1754.
10. Jessner M (1921) Case demonstration Breslau dermatologic association. Arch Dermatol Syphil (Berlin) 133: 48
11. Kanitakis J et al. (2003) Melanocyte stimulation in focal dermal hypoplasia with unusual pigmented skin lesions: a histologic and immunohistochemical study. Pediatr Dermatol 20: 249-253
12. Nakanishi G et al. (2013) Novel and recurrent PORCN gene mutations in almost unilateral and typical focal dermal hypoplasia patients. Eur J Dermatol 23:64-67.
13. Skaria A et al. (1995) The clinical spectrum of focal dermal hypoplasia. Dermatologist 46: 779-784
14. Tewari A et al. (2019) Postzygotic mosaicism in a woman with Goltz syndrome mimics segmental angioma serpiginosum. Br J Dermatol 181:613-614.