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Focal dermal hypoplasia

What is it focal dermal hypoplasia?

Focal dermal hypoplasia is a genetically inherited disorder that can affect the development of many different organ systems and was first described by Goltz in 1962. It presents with characteristic abnormalities of the skin, eyes, and teeth and can also have side effects. on the skeleton, digestive, genitourinary, neurological and cardiovascular systems.

It is a rare condition with fewer than 300 reported cases, the majority of which are women.

The name is really misleading as tissue thinning is not limited to the dermis but it also involves epidermis and subcutaneous tissue.

How do you get focal dermal hypoplasia?

Focal dermal hypoplasia it is genetically inherited in an X-linked dominant manner. It is caused by abnormalities of the PORCN. gene in the X chromosome, and most often these arise in the embryo and are not inherited from a parent. The X chromosome is one of the sex chromosomes: females are XX, males are XY. Females with an abnormal X chromosome are affected by FDH, but most male embryos with the abnormal gene do not survive.

Focal dermal hypoplasia It can affect almost any organ in the body. As with other X-linked dominant conditions, skin manifestations follow lines of development known as Blaschko lines.

Genetics of focal dermal hypoplasia*


Focal Dermal Hypoplasia

* Image courtesy of Genetics 4 Medics

What are the effects of focal dermal hypoplasia?

Focal dermal hypoplasia it can have a wide range of effects on a variety of organ systems, and the severity of the condition can vary greatly between people depending on the number of organs involved and the nature of the abnormalities.

Skin signs

  • Linear hypoplastic (thinned) stripes that follow Blaschko's lines
  • Fat nodules and fat hernia
  • Telangiectasia (surface visible blood vessels)
  • verrucoid papillomas (warty growths)
  • Pyogenic granuloma-like injuries
  • Alopecia (thinning, baldness, hair loss), brittle/sparse hair
  • nail abnormalities
  • Palm and plant hyperkeratosis (thickened skin on hands and feet)
  • Aplasia skin congenitallocated total skin loss)
  • Hyperhidrosis (excessive sweating)


  • Structural abnormalities of the eye: microphthalmia (small eye), anophthalmia (missing eye)
  • shifted lens
  • Choroidoretinal coloboma (retina and choroid are missing)
  • Optic nerve atrophy (lack of nerve supply to the eye)
  • Blocked lacrimal (tear duct


  • Dental abnormalities: hypoplastic (small) teeth, abnormal enamel
  • microcephaly (small head), unilateral facial microsomia (underdeveloped face)
  • Cleft lip and palate
  • Low ears
  • Hand and foot abnormalities: ectrodactyly (lobster claw), brachydactyly (short fingers), oligodactyly (missing fingers), syndactyly (joined fingers)
  • Abnormal vertebrae, bifid (double) or fused ribs, small collarbone
  • Striated (striped) bones in X-ray


  • Structural abnormalities of the kidney: renal agenesis (kidney failure), horseshoe kidney, hydronephrosis (inflammation of the kidney), bifid (split) ureter
  • Bladder exstrophy (bladder inside out)


  • Oomphalocoele (abdominal contents outside the abdomen)
  • Intestinal malrotation (twisted intestine)
  • Anus displaced anteriorly
  • Gastro- severeesophageal Reflux


  • Congenital heart disease


  • Structural abnormalities of the central nervous system: meningomyelocele (spina bifida), hydrocephalus (swollen brain), Arnold-Chiari malformation (deformed later brain), corpus callosum absent
  • Visual and hearing impairment
  • Most (>80%) reported normal psychological functioning
Focal dermal hypoplasia (Goltz syndrome)


Focal dermal hypoplasia (Goltz syndrome)


Focal dermal hypoplasia (Goltz syndrome)


Focal dermal hypoplasia (Goltz syndrome)


Focal dermal hypoplasia (Goltz syndrome)

What treatment is available for focal dermal hypoplasia?

Treatment will depend on the specialized care required for each specific problem. There will often be specialists from multiple disciplines involved.

by cutaneous problems: telangiectatic areas and papillomas may respond to vascular lasers papillomas can be surgically removed if problematic.