Cutis verticis gyrata

Classification according to ICD-10
Q82.8	Other specified congenital skin malformations
L91.8	Other hypertrophic skin diseases
ICD-10 online (WHO version 2019)

The cutis gyrata verticis (CGV) is a very rare congenital disease with a malformation of the head skin (cutis) with an upright (vertical) wrinkling on the surface of the cortex reminds (gyrate).

Synonyms are: Audry syndrome; Bull-dog-scalp syndrome; wrinkled pachydermia; wrinkled pachydermia perin; Pachydermia wrinkled; Latin cutis capitis gyrata; Cutis gyrata Unna; Cutis verticis plicata; Nevus cerebriformis; Pachydermia verticis gyrata

The first description as "cutis sulcata" comes from the year 1837 by Jean-Louis Alibert (quoted from Simona Georgescu).

The term 'cutis gyrate verticis "was founded in 1907 by Paul Gerson Unna marked

Classification

The following classification is possible:

essential form, isolated with no further anomalies
non-essential form with other abnormalities such as intellectual disability , epilepsy , cataract, or deafness
primary ( idiopathic ) form
secondary form in numerous underlying diseases:
- Acanthosis nigricans
- Acromegaly
- Amyloidosis
- Beare Stevenson Cutis Gyrata Syndrome
- Connective tissue nevus
- Dermal cylindroma
- Dermatofibroma
- Diabetes mellitus
- Ehlers-Danlos Syndrome
- inflammatory skin processes
- Fibroma
- Job Syndrome
- Brain tumor such as aneurysm , ependymoma
- Type A insulin resistance syndrome
- cretinism
- cutaneous focal mucinosis
- leukemia
- HIV-associated lipodystrophy
- Mucinosis
- Graves disease
- Myxedema
- Naevus lipomatosus
- Neuralgic amyotrophy
- Neurofibroma
- Non-Hodgkin lymphoma
- Noonan's Syndrome
- Pachydermoperiostosis
- Pseudoacromegaly
- Reed syndrome
- syphilis
- Trisomy
- Tube carcinoma
- Tuberous sclerosis
- Turner Syndrome
- Vemurafenib and radiation therapy for melanoma

distribution

The frequency of the primary form is estimated at 1 in 100,000 in males, only 1/5 of those affected are female.

In some syndromes , the cutis verticis gyrata is a key feature:

Akesson's syndrome
Cohen Syndrome
Mcdowall syndrome

Clinical manifestations

Clinical criteria are:

Occurrence around puberty , in 90% before the age of 30, predominantly in males
Progressive hypertrophy of the skin with thickening ( pachydermia ) and furrowing, mainly in the area of the scalp hair, but also forehead and neck
normal hair in the furrows, diminished on the wrinkles

In addition, further abnormalities can occur in the primary form.

Differential diagnosis

The following are to be distinguished:

Amyloidosis
leukemic infiltrates
Michelin Tire Baby Syndrome (skin folds, multiple rings, of the extremities)
Neurofibroma
Pigment nevus

history

The first clinical description comes from Robert from 1843, another by Josef Jadassohn from 1906 Other names refer to a publication from 1909 by the French doctor Charles Audry (1865 - 1934)

literature

NQ Nguyen: Cutis verticis gyrata. In: Dermatology online journal. Volume 9, Number 4, October 2003, p. 32, PMID 14594605 .
O. Tan, D. Ergen: Primary essential cutis verticis gyrata in an adult female patient: a case report. In: The Journal of Dermatology . Volume 33, Number 7, July 2006, pp. 492-495, doi: 10.1111 / j.1346-8138.2006.00116.x , PMID 16848824 .

Individual evidence

↑ ^a ^b ^c ^d ^e Encyclopedia Dermatology
↑ ^a ^b ^c Cutis verticis gyrata, primary. In: Orphanet (Rare Disease Database).
↑ SR Georgescu: Cutis verticis gyrate in a patient with multiple basal cell carcinomas; case presentation and review of the literature. In: Journal of Mind and Medical Sciences , Vol. 3, No. 1, pp. 80–87, [1]
↑ PG Unna: Cutis verticis gyrata. In: Monthly Practical Dermatology , 1907, Vol. 45, p. 227
↑ ^a ^b ^c emedicine
↑ cutis gyrate - acanthosis nigricans - craniosynostosis. In: Orphanet (Rare Disease Database).
^ Neuralgic amyotrophy. In: Orphanet (Rare Disease Database).
↑ CUTIS VERTICIS GYRATA, THYROID APLASIA, AND MENTAL RETARDATION. In: Online Mendelian Inheritance in Man . (English)
↑ COHEN SYNDROMS. In: Online Mendelian Inheritance in Man . (English)
↑ CUTIS VERTICIS GYRATA AND MENTAL RETARDATION; CVG / MR. In: Online Mendelian Inheritance in Man . (English)
↑ J. Jadassohn: A peculiar furrowing, expansion and thickening of the skin on the back of the head. In: Negotiations of the German Dermatological Society , IX. Congress, 1909, p. 451
↑ Who named it
^ A. Audry: Pachydermia occipitale vorticalée (cutis verticis gyrata). In: Annales Dermatologiques et de Syphiligraphie (Paris), 1909, Vol. 10, pp. 257-258

Web links

Rare Diseases

[Altmeyer-1] Encyclopedia Dermatology

[Orpha-2] Cutis verticis gyrata, primary. In: Orphanet (Rare Disease Database).

[3] SR Georgescu: Cutis verticis gyrate in a patient with multiple basal cell carcinomas; case presentation and review of the literature. In: Journal of Mind and Medical Sciences , Vol. 3, No. 1, pp. 80–87, [1]

[4] PG Unna: Cutis verticis gyrata. In: Monthly Practical Dermatology , 1907, Vol. 45, p. 227

[emed-5] ↑ ^a ^b ^c emedicine

[6] cutis gyrate - acanthosis nigricans - craniosynostosis. In: Orphanet (Rare Disease Database).

[7] Neuralgic amyotrophy. In: Orphanet (Rare Disease Database).

[8] CUTIS VERTICIS GYRATA, THYROID APLASIA, AND MENTAL RETARDATION. In: Online Mendelian Inheritance in Man . (English)

[9] COHEN SYNDROMS. In: Online Mendelian Inheritance in Man . (English)

[10] CUTIS VERTICIS GYRATA AND MENTAL RETARDATION; CVG / MR. In: Online Mendelian Inheritance in Man . (English)

[11] J. Jadassohn: A peculiar furrowing, expansion and thickening of the skin on the back of the head. In: Negotiations of the German Dermatological Society , IX. Congress, 1909, p. 451

[12] Who named it

[13] A. Audry: Pachydermia occipitale vorticalée (cutis verticis gyrata). In: Annales Dermatologiques et de Syphiligraphie (Paris), 1909, Vol. 10, pp. 257-258