June 2019 | Case of the Month

History

A 6 month year old child came along to our monthly dermatology departmental meeting with skin changes that had been present since birth predominately involving the right chest and right arm. There were also very small areas of involvement affecting the skin lateral to the right eye, the right posterior neck and the right foot. The child had also had an episode of haemoptysis, which required a bronchoscopy, the findings were unremarkable. 


Examination

There was a capillary malformation in the aforementioned areas and also varicose veins on the chest. 


Investigations

What is the probable diagnosis?


Images

Diagnosis

RevealHide the answer

The diagnosis is in keeping with the Klippel–Trenaunay syndrome (KTS).

KTS is characterized by three features: (i) a capillary malformation (port‐wine stain) of the skin associated with (ii) a soft‐tissue and bone overgrowth and hypertrophy in combination with (iii) varicose veins, with or without deep venous and lymphatic abnormalities. It can be diagnosed if only two of the three features are present.

The capillary/venular malformation (port‐wine stain) affects 98% of KTS and is usually present at birth. The abnormal veins affect 72% of cases, and as with this case may not affect typical sites; some of the varicosities are only visible once the child is walking. Limb hypertrophy affects 67% of affected individuals. 

The skin changes can be seen as follows:

  • Most commonly involve the lower limbs, followed by the arms, the trunk and rarely the head and neck
  • The capillary/venular malformation (port‐wine stain) is pink-reddish with linear borders, may darken with age to purple. 10% are nodular
  • The changes seldom cross the midline

Management:

  • Effective treatment can be given to the capillary malformation using pulsed dye laser
  • Given the possible limb changes, difficulties with varicose veins and other potential complications (including genitourinary haemorrhage, gastrointestinal haemorrhage, haemothorax) a multidisciplinary approach is required 

Images copied with kind permission from South Tees Hospitals NHS Foundation Trust. 

Latest Cases of the Month

September 2021 - Case of the Month

A 24-year-old woman presented with a several year history of evolving 'lumps' especially on the central chest. The lady had mild facial acne and was otherwise well. 

August 2021 - Case of the Month

A 52 year old man presented with a one year history of skin lesions predominantly on his hands, ears and scalp. He was also complaining of painful swollen fingers associated with morning stiffness. There was no family history of skin or joint problem...

July 2021 - Case of the Month

A 72 year old man was referred with a rash, predominantly on the legs. The patient was systemically well and the lesions were only mildly symptomatic. The lesions presented as one to several at a time lasting several weeks. They had not res...

June 2021 - Case of the Month

Welcome back to the new look PCDS website, and our first case. This lady was referred as a 2-week wait with a changing lesion on the right temple.

September 2020 - Case of the Month

A 15 year old lady was referred for a diagnostic opinion for skin changes presenting in birth, affecting the right upper back, shoulder, antecubital fossa and dorsal wrist. The patient was asymptomatic and otherwise well.

The following pharmaceutical companies have had no involvement in the content of this website or in our conference programmes

Almirall
Galderma
Glenmark
Johnson & Johnson
La Roche-Posay
LEO Pharma
Pierre Fabre
Schuco