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Focal dermal hypoplasia(FDH)

MedGen UID:
42055
Concept ID:
C0016395
Disease or Syndrome
Synonyms: FDH; Goltz Gorlin Syndrome; Goltz Syndrome
Modes of inheritance:
X-linked dominant inheritance
MedGen UID:
376232
Concept ID:
C1847879
Finding
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation.
X-linked dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Goltz-Gorlin (dermal hypoplasia) syndrome (2298005); Goltz Gorlin syndrome (2298005); Focal dermal hypoplasia (205573006); FDH - Focal dermal hypoplasia (205573006); FODH - Focal dermal hypoplasia (205573006); Goltz syndrome (2298005); Focal dermal hypoplasia syndrome (2298005); Goltz-Gorlin syndrome (2298005)
 
Gene (location): PORCN (Xp11.23)
OMIM®: 305600
Orphanet: ORPHA2092

Definition

Focal dermal hypoplasia is a multisystem disorder characterized primarily by involvement of the skin, skeletal system, eyes, and face. Skin manifestations present at birth include atrophic and hypoplastic areas of skin; cutis aplasia; fat nodules in the dermis manifesting as soft, yellow-pink cutaneous nodules; and pigmentary changes. Verrucoid papillomas of the skin and mucous membranes may appear later. The nails can be ridged, dysplastic, or hypoplastic; hair can be sparse or absent. Limb malformations include oligo-/syndactyly and split hand/foot. Developmental abnormalities of the eye can include anophthalmia/microphthalmia, iris and chorioretinal coloboma, and lacrimal duct abnormalities. Craniofacial findings can include facial asymmetry, notched alae nasi, cleft lip and palate, and pointed chin. Occasional findings include dental anomalies, abdominal wall defects, diaphragmatic hernia, and renal anomalies. Psychomotor development is usually normal; some individuals have cognitive impairment. [from GeneReviews]

Additional descriptions

From OMIM
Focal dermal hypoplasia is inherited as an X-linked dominant with in utero lethality in males. The features include atrophy and linear pigmentation of the skin, herniation of fat through the dermal defects, and multiple papillomas of the mucous membranes or skin. In addition, digital anomalies consist of syndactyly, polydactyly, camptodactyly, and absence deformities. Oral anomalies, in addition to lip papillomas, include hypoplastic teeth. Ocular anomalies (coloboma of iris and choroid, strabismus, microphthalmia) have also been present in some cases. Mental retardation occurs in some patients. Striated bones are probably a nearly constant feature (Larregue and Duterque, 1975; Happle and Lenz, 1977). Reports from the International Research Symposium on Goltz Syndrome in 2013 were published in the American Journal of Medical Genetics; the authors and subjects of the reports are listed in an introduction by Fete and Fete (2016).  http://www.omim.org/entry/305600
From GHR
Focal dermal hypoplasia is a genetic disorder that primarily affects the skin, skeleton, eyes, and face. About 90 percent of affected individuals are female. Males usually have milder signs and symptoms than females. Although intelligence is typically unaffected, some individuals have intellectual disability.People with focal dermal hypoplasia have skin abnormalities present from birth, such as streaks of very thin skin (dermal hypoplasia), yellowish-pink nodules of fat under the skin, areas where the top layers of skin are absent (cutis aplasia), small clusters of veins on the surface of the skin (telangiectases), and streaks of slightly darker or lighter skin. These skin changes may cause pain, itching, irritation, or lead to skin infections. Wart-like growths called papillomas are usually not present at birth but develop with age. Papillomas typically form around the nostrils, lips, anus, and female genitalia. They may also be present in the throat, specifically in the esophagus or larynx, and can cause problems with swallowing, breathing, or sleeping. Papillomas can usually be surgically removed if necessary. Affected individuals may have small, ridged fingernails and toenails. Hair on the scalp can be sparse and brittle or absent.Many individuals with focal dermal hypoplasia have hand and foot abnormalities, including missing fingers or toes (oligodactyly), webbed or fused fingers or toes (syndactyly), and a deep split in the hands or feet with missing fingers or toes and fusion of the remaining digits (ectrodactyly). X-rays can show streaks of altered bone density, called osteopathia striata, that do not cause any symptoms in people with focal dermal hypoplasia.Eye abnormalities are common in individuals with focal dermal hypoplasia, including small eyes (microphthalmia), absent or severely underdeveloped eyes (anophthalmia), and problems with the tear ducts. Affected individuals may also have incomplete development of the light-sensitive tissue at the back of the eye (retina) or the nerve that relays visual information from the eye to the brain (optic nerve). This abnormal development of the retina and optic nerve can result in a gap or split in these structures, which is called a coloboma. Some of these eye abnormalities do not impair vision, while others can lead to low vision or blindness.People with focal dermal hypoplasia may have distinctive facial features. Affected individuals often have a pointed chin, small ears, notched nostrils, and a slight difference in the size and shape of the right and left sides of the face (facial asymmetry). These facial characteristics are typically very subtle. An opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate) may also be present.About half of individuals with focal dermal hypoplasia have abnormalities of their teeth, especially the hard, white material that forms the protective outer layer of each tooth (enamel). Less commonly, abnormalities of the kidneys and gastrointestinal system are present. The kidneys may be fused together, which predisposes affected individuals to kidney infections but does not typically cause significant health problems. The main gastrointestinal abnormality that occurs in people with focal dermal hypoplasia is an omphalocele, which is an opening in the wall of the abdomen that allows the abdominal organs to protrude through the navel. The signs and symptoms of focal dermal hypoplasia vary widely, although almost all affected individuals have skin abnormalities.  https://ghr.nlm.nih.gov/condition/focal-dermal-hypoplasia

Clinical features

Congenital aniridia
MedGen UID:
1941
Concept ID:
C0003076
Congenital Abnormality
Aniridia is an eye disorder characterized by a complete or partial absence of the colored part of the eye (the iris). These iris abnormalities may cause the pupils to be abnormal or misshapen. Aniridia can cause reduction in the sharpness of vision (visual acuity) and increased sensitivity to light (photophobia).People with aniridia can also have other eye problems. Increased pressure in the eye (glaucoma) typically appears in late childhood or early adolescence. Clouding of the lens of the eye (cataracts), occur in 50 percent to 85 percent of people with aniridia. In about 10 percent of affected people, the structures that carry information from the eyes to the brain (optic nerves) are underdeveloped. Individuals with aniridia may also have involuntary eye movements (nystagmus) or underdevelopment of the region at the back of the eye responsible for sharp central vision (foveal hypoplasia). Many of these eye problems contribute to progressive vision loss in affected individuals. The severity of symptoms is typically the same in both eyes.Rarely, people with aniridia have behavioral problems, developmental delay, and problems detecting odors.
Anophthalmia
MedGen UID:
314
Concept ID:
C0003119
Congenital Abnormality
Arnold-Chiari malformation
MedGen UID:
2065
Concept ID:
C0003803
Congenital Abnormality
Cryptorchidism, unilateral or bilateral
MedGen UID:
8192
Concept ID:
C0010417
Congenital Abnormality
Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).
Hypoplasia of dental enamel
MedGen UID:
3730
Concept ID:
C0011351
Disease or Syndrome
Ectopia lentis
MedGen UID:
41704
Concept ID:
C0013581
Congenital Abnormality
Inguinal hernia
MedGen UID:
6817
Concept ID:
C0019294
Finding
Umbilical hernia
MedGen UID:
9232
Concept ID:
C0019322
Disease or Syndrome
Dysplasia of acetabulum
MedGen UID:
9258
Concept ID:
C0019555
Congenital Abnormality
Hydrocephalus
MedGen UID:
9335
Concept ID:
C0020255
Disease or Syndrome
Autosomal recessive nonsyndromic hydrocephalus is characterized by onset in utero of enlarged ventricles due to a disturbance of cerebrospinal fluid accumulation. Affected individuals may have neurologic impairment (summary by Drielsma et al., 2012). Hydrocephalus can also be caused by Arnold-Chiari malformation, atresia of foramen of Magendie, stenosis of aqueduct of Sylvius (307000), toxoplasmosis, hydranencephaly, etc. Furthermore, it develops in infancy or childhood in achondroplasia (100800) and in Hurler disease (607014). Genetic Heterogeneity of Congenital Hydrocephalus See also autosomal recessive HYC2 (615219), caused by mutation in the MPDZ gene (603785) on chromosome 9p. An X-linked form (307000) is caused by mutation in the L1CAM gene on (308840) on chromosome Xq28.
Hydronephrosis
MedGen UID:
42531
Concept ID:
C0020295
Disease or Syndrome
Partial congenital absence of teeth
MedGen UID:
43794
Concept ID:
C0020608
Congenital Abnormality
Tooth agenesis in some form is a common human anomaly that affects approximately 20% of the population. Although tooth agenesis is associated with numerous syndromes, several case reports describe nonsyndromic forms that are either sporadic or familial in nature, as reviewed by Gorlin et al. (1990). The incidence of familial tooth agenesis varies with each class of teeth. Most commonly affected are third molars (wisdom teeth), followed by either upper lateral incisors or lower second premolars; agenesis involving first and second molars is very rare. Also see 114600 and 302400. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). Faulty use of the terms, however, have confounded their use. The term 'partial anodontia' is obsolete (Salinas, 1978). Genetic Heterogeneity of Selective Tooth Agenesis Other forms of selective tooth agenesis include STHAG2 (602639), mapped to chromosome 16q12; STHAG3 (604625), caused by mutation in the PAX9 gene (167416) on chromosome 14q12; STHAG4 (150400), caused by mutation in the WNT10A gene (606268) on chromosome 2q35; STHAG5 (610926), mapped to chromosome 10q11; STHAG7 (616724), caused by mutation in the LRP6 gene (603507) on chromosome 12p13; STHAG8 (617073), caused by mutation in the WNT10B gene (601906) on chromosome 12q13; STHAG9 (617275), caused by mutation in the GREM2 gene (608832) on chromosome 1q43; and STHAGX1 (313500), caused by mutation in the EDA gene (300451) on chromosome Xq13. A type of selective tooth agenesis that was formerly designated STHAG6 has been incorporated into the dental anomalies and short stature syndrome (DASS; 601216). Of 34 unrelated patients with nonsyndromic tooth agenesis, van den Boogaard et al. (2012) found that 56% (19 patients) had mutations in the WNT10A gene (STHAG4), whereas only 3% and 9% had mutations in the MSX1 (STHAG1) and PAX9 (STHAG3) genes, respectively. The authors concluded that WNT10A is a major gene in the etiology of isolated hypodontia. Genotype-Phenotype Correlations Yu et al. (2016) observed that the most frequently missing permanent teeth in WNT10B-associated oligodontia were the lateral incisors (83.3%), whereas premolars were missing only 51.4% of the time, which they noted was a pattern 'clearly different' from the oligodontia patterns resulting from WNT10A mutations. They also stated that the selective pattern in WNT10B mutants was different from that associated with mutations in other genes, such as MSX1, in which second premolars are missing, and PAX9, in which there is agenesis of molars.
Dental malocclusion
MedGen UID:
9869
Concept ID:
C0024636
Anatomical Abnormality
Myelocystocele
MedGen UID:
7538
Concept ID:
C0025312
Congenital Abnormality
Microphthalmos
MedGen UID:
10033
Concept ID:
C0026010
Congenital Abnormality
Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.People with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision.People with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.Between one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated.
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Optic atrophy
MedGen UID:
18180
Concept ID:
C0029124
Disease or Syndrome
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
Telangiectasia
MedGen UID:
21088
Concept ID:
C0039446
Disease or Syndrome
Spina bifida occulta
MedGen UID:
36380
Concept ID:
C0080174
Congenital Abnormality
Joint laxity
MedGen UID:
39439
Concept ID:
C0086437
Pathologic Function
Dermal atrophy
MedGen UID:
101793
Concept ID:
C0151514
Disease or Syndrome
Mixed hearing impairment
MedGen UID:
102336
Concept ID:
C0155552
Disease or Syndrome
Foot polydactyly
MedGen UID:
510637
Concept ID:
C0158734
Congenital Abnormality
Corpus callosum agenesis
MedGen UID:
104498
Concept ID:
C0175754
Congenital Abnormality
The corpus callosum is the largest fiber tract in the central nervous system and the major interhemispheric fiber bundle in the brain. Formation of the corpus callosum begins as early as 6 weeks' gestation, with the first fibers crossing the midline at 11 to 12 weeks' gestation, and completion of the basic shape by age 18 to 20 weeks (Schell-Apacik et al., 2008). Agenesis of the corpus callosum (ACC) is one of the most frequent malformations in brain with a reported incidence ranging between 0.5 and 70 in 10,000 births. ACC is a clinically and genetically heterogeneous condition, which can be observed either as an isolated condition or as a manifestation in the context of a congenital syndrome (see MOLECULAR GENETICS and Dobyns, 1996). Also see mirror movements-1 and/or agenesis of the corpus callosum (MRMV1; 157600). Schell-Apacik et al. (2008) noted that there is confusion in the literature regarding radiologic terminology concerning partial absence of the corpus callosum, where various designations have been used, including hypogenesis, hypoplasia, partial agenesis, or dysgenesis.
Volvulus of midgut
MedGen UID:
113153
Concept ID:
C0221210
Congenital Abnormality
Nail dystrophy
MedGen UID:
66368
Concept ID:
C0221260
Disease or Syndrome
Horseshoe kidney
MedGen UID:
65140
Concept ID:
C0221353
Congenital Abnormality
Brachydactyly
MedGen UID:
67454
Concept ID:
C0221357
Congenital Abnormality
Ureter duplex
MedGen UID:
66380
Concept ID:
C0221365
Congenital Abnormality
Split hand
MedGen UID:
67457
Concept ID:
C0221373
Congenital Abnormality
Diastasis recti
MedGen UID:
113171
Concept ID:
C0221766
Anatomical Abnormality
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
Congenital diaphragmatic hernia
MedGen UID:
68625
Concept ID:
C0235833
Disease or Syndrome
Delayed eruption of teeth
MedGen UID:
68678
Concept ID:
C0239174
Finding
Low-set ears
MedGen UID:
65980
Concept ID:
C0239234
Congenital Abnormality
Iris coloboma
MedGen UID:
116097
Concept ID:
C0240063
Anatomical Abnormality
Retinal coloboma
MedGen UID:
66820
Concept ID:
C0240896
Congenital Abnormality
Brittle hair
MedGen UID:
120480
Concept ID:
C0263490
Disease or Syndrome
Osteopathia striata
MedGen UID:
75574
Concept ID:
C0265513
Congenital Abnormality
Toe syndactyly
MedGen UID:
75581
Concept ID:
C0265660
Congenital Abnormality
Supernumerary nipple
MedGen UID:
120564
Concept ID:
C0266011
Congenital Abnormality
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
Stenosis of the external auditory canal
MedGen UID:
140758
Concept ID:
C0395837
Finding
Microcephaly
MedGen UID:
473122
Concept ID:
C0424688
Finding
Narrow nasal bridge
MedGen UID:
98086
Concept ID:
C0426422
Finding
Broad nasal tip
MedGen UID:
98424
Concept ID:
C0426429
Finding
Short ribs
MedGen UID:
98094
Concept ID:
C0426817
Finding
Postaxial hand polydactyly
MedGen UID:
609221
Concept ID:
C0431904
Congenital Abnormality
Split foot
MedGen UID:
140919
Concept ID:
C0432028
Congenital Abnormality
Hypoplastic nipples
MedGen UID:
98156
Concept ID:
C0432355
Congenital Abnormality
Scoliosis
MedGen UID:
195976
Concept ID:
C0700208
Finding
The presence of an abnormal lateral curvature of the spine.
Hand oligodactyly
MedGen UID:
152602
Concept ID:
C0728895
Congenital Abnormality
Congenital omphalocele
MedGen UID:
162756
Concept ID:
C0795690
Congenital Abnormality
An omphalocele is an abdominal wall defect limited to an open umbilical ring, and is characterized by the herniation of membrane-covered internal organs into the open base of the umbilical cord. Omphalocele is distinguished from gastroschisis (230750), in which the abdominal wall defect is located laterally to a normally closed umbilical ring with herniation of organs that are uncovered by membranes (summary by Bugge, 2010). On the basis of clinical manifestations, epidemiologic characteristics, and the presence of additional malformations, Yang et al. (1992) concluded that omphalocele and gastroschisis are casually and pathogenetically distinct abdominal wall defects. Omphalocele can be a feature of genetic disorders, such as Beckwith-Wiedemann syndrome (130650) and the Shprintzen-Goldberg syndrome (182210).
Abnormality of the pinna
MedGen UID:
167800
Concept ID:
C0857379
Finding
An abnormality of the pinna, which is also referred to as the auricle or external ear.
Short phalanx of finger
MedGen UID:
163753
Concept ID:
C0877165
Finding
Facial asymmetry
MedGen UID:
266298
Concept ID:
C1306710
Finding
Nail dysplasia
MedGen UID:
331737
Concept ID:
C1834405
Disease or Syndrome
Short metacarpal
MedGen UID:
323064
Concept ID:
C1837084
Finding
Sparse hair
MedGen UID:
332942
Concept ID:
C1837770
Finding
Anteriorly placed anus
MedGen UID:
333160
Concept ID:
C1838705
Finding
Pointed chin
MedGen UID:
336193
Concept ID:
C1844505
Finding
Clitoral hypoplasia
MedGen UID:
336198
Concept ID:
C1844527
Finding
Midclavicular aplasia
MedGen UID:
337017
Concept ID:
C1844529
Finding
Midclavicular hypoplasia
MedGen UID:
337018
Concept ID:
C1844530
Finding
Cleft ala nasi
MedGen UID:
336715
Concept ID:
C1844537
Finding
Short finger
MedGen UID:
334977
Concept ID:
C1844548
Finding
Absent fingernail
MedGen UID:
336718
Concept ID:
C1844554
Congenital Abnormality
Absent toenail
MedGen UID:
336719
Concept ID:
C1844555
Congenital Abnormality
Short metatarsal
MedGen UID:
341358
Concept ID:
C1849020
Finding
Labial hypoplasia
MedGen UID:
342473
Concept ID:
C1850325
Finding
Reticular hyperpigmentation
MedGen UID:
338832
Concept ID:
C1851972
Finding
Patchy alopecia
MedGen UID:
350774
Concept ID:
C1862862
Finding
Cleft secondary palate
MedGen UID:
756015
Concept ID:
C2981150
Congenital Abnormality
Linear hyperpigmentation
MedGen UID:
480288
Concept ID:
C3278658
Finding
Hiatal hernia
MedGen UID:
483347
Concept ID:
C3489393
Disease or Syndrome
Visual impairment
MedGen UID:
777085
Concept ID:
C3665347
Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
Bifid ureter
MedGen UID:
854360
Concept ID:
C3887498
Congenital Abnormality
Cleft upper lip
MedGen UID:
892653
Concept ID:
C4020893
Abnormality of the larynx
MedGen UID:
867407
Concept ID:
C4021777
Anatomical Abnormality
Oligodontia
MedGen UID:
904670
Concept ID:
C4082304
Congenital Abnormality
Foot oligodactyly
MedGen UID:
923973
Concept ID:
C4281601
Anatomical Abnormality
A developmental defect resulting in the presence of fewer than the normal number of toes.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFocal dermal hypoplasia
Follow this link to review classifications for Focal dermal hypoplasia in Orphanet.

Recent clinical studies

Etiology

Gunasekera NS, Divito JK, Kupper TS, Huang JT, Divito SJ
Pediatr Dermatol 2017 Mar;34(2):197-198. Epub 2016 Dec 26 doi: 10.1111/pde.13056. PMID: 28025844Free PMC Article
Motil KJ, Fete M, Fete TJ
Am J Med Genet C Semin Med Genet 2016 Mar;172C(1):29-33. Epub 2016 Feb 1 doi: 10.1002/ajmg.c.31468. PMID: 27001925
Bostwick B, Fang P, Patel A, Sutton VR
Am J Med Genet C Semin Med Genet 2016 Mar;172C(1):9-20. Epub 2016 Feb 7 doi: 10.1002/ajmg.c.31473. PMID: 26853229
Deidrick KK, Early M, Constance J, Stein M, Fete TJ
Am J Med Genet C Semin Med Genet 2016 Mar;172C(1):34-40. Epub 2016 Jan 28 doi: 10.1002/ajmg.c.31471. PMID: 26818018
Murakami C, de Oliveira Lira Ortega A, Guimarães AS, Gonçalves-Bittar D, Bönecker M, Ciamponi AL
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2011 Aug;112(2):e11-8. doi: 10.1016/j.tripleo.2011.03.012. PMID: 21684779

Diagnosis

Mary L, Scheidecker S, Kohler M, Lombardi MP, Delezoide AL, Auberger E, Triau S, Colin E, Gerard M, Grzeschik KH, Dollfus H, Antal MC
Am J Med Genet A 2017 Feb;173(2):479-486. Epub 2016 Sep 13 doi: 10.1002/ajmg.a.37974. PMID: 27623003
Gisseman JD, Herce HH
Am J Med Genet C Semin Med Genet 2016 Mar;172C(1):59-63. doi: 10.1002/ajmg.c.31480. PMID: 27001926
Bree AF, Grange DK, Hicks MJ, Goltz RW
Am J Med Genet C Semin Med Genet 2016 Mar;172C(1):44-51. Epub 2016 Feb 9 doi: 10.1002/ajmg.c.31472. PMID: 26858134
Bostwick B, Fang P, Patel A, Sutton VR
Am J Med Genet C Semin Med Genet 2016 Mar;172C(1):9-20. Epub 2016 Feb 7 doi: 10.1002/ajmg.c.31473. PMID: 26853229
Deidrick KK, Early M, Constance J, Stein M, Fete TJ
Am J Med Genet C Semin Med Genet 2016 Mar;172C(1):34-40. Epub 2016 Jan 28 doi: 10.1002/ajmg.c.31471. PMID: 26818018

Therapy

Krakowski AC, Ozog DM, Ginsberg D, Cheng C, Chaffins ML
JAMA Dermatol 2017 Dec 1;153(12):1292-1297. doi: 10.1001/jamadermatol.2017.3669. PMID: 28975212
Pasman EA, Heifert TA, Nylund CM
World J Gastroenterol 2017 Mar 28;23(12):2246-2250. doi: 10.3748/wjg.v23.i12.2246. PMID: 28405153Free PMC Article
Nakanishi G, Hasegawa K, Oono T, Koshida S, Fujimoto N, Iwatsuki K, Tanaka H, Tanaka T
Eur J Dermatol 2013 Jan-Feb;23(1):64-7. doi: 10.1684/ejd.2012.1911. PMID: 23399492
Maalouf D, Mégarbané H, Chouery E, Nasr J, Badens C, Lacoste C, Grzeschik KH, Mégarbané A
Arch Dermatol 2012 Jan;148(1):85-8. doi: 10.1001/archdermatol.2011.343. PMID: 22250236
Liu J, Hsu PT, VanderWielen BA, Teng JM
Pediatr Dermatol 2012 May-Jun;29(3):324-6. Epub 2011 Oct 13 doi: 10.1111/j.1525-1470.2011.01436.x. PMID: 21995324

Prognosis

Bree AF, Grange DK, Hicks MJ, Goltz RW
Am J Med Genet C Semin Med Genet 2016 Mar;172C(1):44-51. Epub 2016 Feb 9 doi: 10.1002/ajmg.c.31472. PMID: 26858134
Arias-Llorente RP, Rodriguez-Dehli C, López-Martínez A, Riaño-Galán I
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