Dr khola aijaz

d-derm
duhs
 Bio data

▸ 3 yr old female patient Abida d/o Nazir Ahmed , resident of Quetta ,NKCM , presented to us in OPD
on 26 April,2022.

2
 Presenting complain

▸ Painful bluish nodules from 2 yrs

3
 History of presenting complain

▸ 2 years back patient noticed one painful blue or purplish small nodule developed on the right side of
the thigh area. This nodule is tender on palpation and there is no any discharge, itching , dryness ,
scaling , crusting , wet or warm sensation in that area.
▸ After some time slowly or gradually same pattern of multiple painful slight bluish to purple nodules
and patches are developed on various sides of the body specially on the right pelvic region, left side of
the chest, right knee joint, behind back , on the left side of the chin, right inguinal area and on hip
region.
▸ The attendant notices no aggravation or relieving factors.
▸ Pain feels on palpation or on compression of nodules.

4
 Past medical history

▸ Not significant.

5
 PAST Drug HISTORY

▸ She has received some injection.

6
 Transfusion history

▸ Positive

7
 Past surgical history

▸ History of excision of the small nodule from the nasal cavity 1.5 years back.

8
 Family history

▸ She has one elder sister and was two brother died because of the same lesion.

9
 Socio economic history

▸ From normal socio economic back ground.

10
 Personal history

▸ Sleep – normal
▸ Appetite- slightly decreased
▸ Bowel habits-fresh small amount of GI bleeding is noted in every stool from past 2 years
▸ Micturition-normal
▸ Weight loss/gain- unremarkable
▸ Addiction – not positive

11
 Systemic review

▸ CNS = No headache, LOC, fits , diplopia , vertigo

▸ CVS = No history of chest pain, SOB , Paroxysmal Nocturnal Dyspnea ,orthopnea , edema ,
palpitations.
▸ CHEST = No history of cough , wheeze, Hemoptysis, post nasal dripping.
▸ GIT = fresh lower GI bleeding is noted from past 2 years.
▸ GENITOURINARY = no history of oliguria , burning micturition , flank pain ,hematuria.
▸ MUSCULOSKELETAL = no history of joint pain , rash or photosensitivity, alopecia, oral ulcers.
▸ ENDOCRINE SYSTEM = No Polydipsia, no history of polyphagia, polyuria, heat or cold
intolerance, palpitations.
▸ HEMATOLOGICAL HISTORY = no recurrent infections, lump in neck, groin, axilla.

12
 examination

3 yr old female patient with normal weight, height, and built, well oriented
with time place, and the person sitting comfortably on her father's lap

▸ VITALS ▸ SUBVITALS
▸ HEART RATE : 88bpm ▸ Anemia = negative
▸ R/R : 17/MIN ▸ Jaundice = negative
▸ B.P: 110/85mmHg ▸ Clubbing, leuconychia,
koilonychia ,pitting = negative
▸ TEMP : 98.6 F.
▸ Cyanosis = negative
▸ Dehydration = negative
▸ Edema = negative
▸ lymph nodes=not palpable

13
 Cutaneous examination

▸ LESIONS: Large well defined patches with

blurred margins while 3 lesions have small
nodules.
▸ SIZE: Lesions are more than 10 in number with
almost oval in shape, 4 ᵡ 6 cm in size.
▸ SITE: left pelvic area, right thigh, right knee
joint , lower back, left side of the nipple, left
side of the chin, left pelvic area and on the hip
area.
▸ COLOUR: Purple color border with central area
is yellow to pale in color.
▸ DISCHARGE: No discharge or sinus.No itching,
scales, crusting, or excoriation is present on the
lesion. Consistency is rubbery on palpation and
compressible in nature.
14
15
Differential diagnosis

16
 Differential diagnosis

▸ Blue rubber bleb nevi

▸ Cutaneo-mucosal venous malformation
▸ Glomuvenous malformation
▸ Leimyosarcoma
▸ Angiolipoma
▸ Glomus tumour
▸ Eccrine spiroadenoma.

17
 Blue rubber bleb nevi

Blue rubber bleb naevus (BRBN) syndrome is a rare, sporadic,

congenital, slow‐flow vascular anomaly. It is characterized by
numerous, widely distributed, cutaneous and internal VMs.
Pathognomic are small, rubbery, dark bluish, palmoplantar lesions
and gastrointestinal VMs.

▸ POINTS IN FAVOUR ▸ POINTS NOT IN FAVOUR

▸ Site and age is favouring ▸ No palmo plantar lesion are present.
▸ GI bleeding history is present ▸ No other organs are involved.
▸ Multiple small bluish rubbery lesions are ▸ No oral mucosa involved.
present.

18
 Cutaneo-mucosal venous malformation

Mucocutaneous VM (VMCM) is an inherited, autosomal dominant,

venous anomaly characterized by multifocal, small, bluish
lesions . They mainly involve the skin and oral
mucosa, but can rarely affect muscles, gastrointestinal tract, lungs
and brain.

▸ POINTS IN FAVOUR ▸ POINTS NOT IN FAVOUR

▸ Skin and GI involvement.
▸ Blue spots (<5 mm2), whereas others
have additional egg‐size symptomatic
lesions.
▸ Site is favouring.
▸ Oral mucosa is not involved.
▸ lesions are commonly multifocal and
small in diameter.

19
 Glomuvenous malformation/ glomus tumour

Glomuvenous malformation (GVM) is an inherited, autosomal

dominant, venous anomaly characterized by multifocal bluish
purple lesions mainly located on the extremities

▸ POINTS IN FAVOUR ▸ POINTS NOT IN FAVOUR

▸ Site and size of lesions are favouring ▸ Lesions are not compressible.
▸ Painful lesions are present. ▸ VMs can also involve the brain, kidneys,
lungs and other organs.

20
 ANGIOLIPOMA

Angiolipoma is a benign tumour composed of mature white

adipose tissue admixed with a variable amount of thin ‐walled
vessels. By definition, some of the vessels should contain fi
brin micro thrombi.

POINTS IN FAVOUR POINTS NOT IN FAVOUR

1. They are multiple variably painful 1. Common in adults.
subcutaneous nodules.
2. Present on upper limbs followed by the 2. Tumour of adipose tissues.
trunk and lower limbs.
3. No history of GI bleeding of other organs
3. Familial incidence is well documented involvement.

21
 Leiomyo sarcoma
A histologically malignant tumour displaying smooth muscle
differentiation. Tumours are divided into those occurring in the
subcutaneous tissue and those arising in the dermis. Pure dermal
lesions have a very different behaviour from those arising in
the subcutis and it is therefore important to separate them. Due
to the benign behaviour of dermal tumours, it has recently been
proposed that they should be renamed as atypical intradermal
smooth muscle neoplasms

POINTS IN FAVOUR POINTS NOT IN FAVOUR

▸ Dermal lesions usually present as a skin ▸ No familial history
colored or red papule or nodule. ▸ No GI involvement
▸ May be painful.

22
 Glomus tumour

A tumour of the myoarterial glomus, composed of vascular channels

surrounded by proliferating glomus cells. The tumours have
variable quantities of glomus cells, blood vessels and smooth muscle.
According to this finding, they are classifi ed as either solid glomus
tumour, glomangioma or glomangiomyoma.

▸ POINTS IN FAVOUR ▸ POINTS NOT IN FAVOUR

▸ Solitary glomus tumour is a pink or purple ▸ Nail involvement is not present
nodule varying in size from 1 to 20 mm.
▸ Painful tumour.
▸ Family history positive.
▸ site is favouring
▸ May also involve internal organs

23
 Eccrine spiradenoma

A benign tumour of sweat gland lineage, which is usually solitary

and is distinguished by its histology

▸ POINTS IN FAVOUR ▸ POINTS NOT IN FAVOUR

▸ Rarely familial ▸ Rarely familial
▸ Sites are favouring ▸ Not GI bleeding

24
diagnosis

25
 Final diagnosis

BLUE RUBBER BLEB

NAEVUS SYNDROME
Bean syndrome

26
 TREATMENT GIVEN TO PATIENT

▸ Syp Paracetamol
1tsp TDS
▸ Refer to vascular surgeon of civil hospital for further tests and management.

27
 BLUE RUBBER BLEB NAEVUS
SYNDROME

▸
“
It is a rare, sporadic, congenital, slow‐flow vascular anomaly. It is characterized by
numerous, widely distributed, cutaneous and internal VMs.
Pathognomic are small, rubbery, dark bluish, palmo plantar lesions
and gastrointestinal VMs

28
 Epidemiology
▸Unknown.
▸No sex predisposition

Associated diseases
▸Localized intravascular coagulation.

29
 PATHOPHYSIOLOGY

▸ It is caused by activating TEK mutations.

▸ These are somatic double mutations in cis on the same allele. They cause strong receptor
activation.
▸ Distinct lesions even at distance have the same cis mutations.

30
 Clinical features

▸ Small (<1–2 cm) cutaneous lesions are usually present at birth, and increase in size and
number with age, often around puberty.
▸ They are dark bluish to purple in colour, often hyperkeratotic of rubbery consistency.
▸ They are especially frequent on the palms and soles.
▸ Gastrointestinal VMs are most commonly located in the small intestine.
▸ Mucosa from mouth to anus.
▸ Gastrointestinal hemorrhage with chronic iron deficiency and severe anemia,
intussusceptions, volvulus and infarction.
▸ VMs can also involve the brain, kidneys, lungs and other organs.
▸ There is great variability in the number, size and location of lesions between affected
individuals.
▸ Life expectancy should not be reduced if bleeding is managed.

31
32
 Investigations

▸ Endoscopy
▸ Colonoscopy
▸ Wireless capsule endoscopy
▸ MRI are needed to document gastrointestinal lesions.

33
 Management

▸ For Chronic anemia iron supplementation should be given.

▸ Blood transfusions.
▸ Aggressive surgical excision of all gastrointestinal lesions should be done in patients who
require blood transfusions or who have frequent intermittent abdominal pain due to
intussusceptions.
▸ Targeted molecular therapies, such as rapamycin, may become an option after validation
in clinical trials.

34
THANK YOU

35