Dx of the Connctive Tissues Dan Flashcards
What is follicular atrophoderma?
Dimple-like ice pick depressions at follicular orifices from birth or early life backs of the hands and feet and cheeks and sometimes in the elbow region can be isolated or part of syndrome syndrome
associations;
1. Palmoplantar hyperkeratosis, follicular keratosis, or palmoplantar hyperhidrosis
2. Bazex syndrome (Bazex-Dupre-Christol)
3. Conradi hunerman syndrome
What is Spontaneous atrophic scarring of the cheeks?
Probably AD disease spontaneous scarring of cheeks in childhood linear/square/varioliform No trauma/acne/inflammation prior asymptomatic/ slight itch
What is vermiculate atrophoderma?
childhood onset, progressive
inflamed follicular plugs on cheeks leading to cribriform/worm-eaten (vermiculate) atrophy
Part of keratosis pilaris atrophicans syndrome or Rombo syndrome
What are the DDs for scarring of the cheeks in kids?
Spontaneous atrophic scarring of the cheeks
Vermiculate Atrophoderma
Follicular atrophoderma
Lipid proteinosisEPP (porphyria)
Hyper IgE syndrome (Job syndrome) – pitted scarring on face
Hydroa vacciniforme (inflammation with sun exposure before scarring)
Varicella scars, juvenille acne scars
DA
What is congenital Cutis laxa?
Lax pendulous skin w/ loss of elastic tissue in dermis
AD (presents later):
ELN(elastin) or FBLN5 (fibulin5)
AR (more common but more severe) - 3 types;
FBLN4 or 5 (type 1) or loss of functional mutations proton ATPase (type 2)
De Barsey syndrome (type 3)
Occipital Horn syndrome - rare X-linked type
What are the types of Keratosis Pilaris atrophicans?
Keratosis pilaris atrophicans faciei (bearded face)
Erythromelanosis follicularis faciei et colli (face and neck)
Ulerythema ophryogenes (eyebrows)
Keratosis follicularis spinulosa decalvans (scalp)
Atrophoderma vermiculata (cheeks)
What is Conradi Hunerman Happle syndrome?
what is the gene and inheritence?
CDPX2 gene XLD, affects females (Conrad Doesnt Play Xylophone 2) SAD FACE Short stature + scoliosis Assymetrical cataracts Dysmorphic face – frontal bossing and macrocephaly Follicular atrophoderma Alopecia Chondrodysplasia punctata – resolves by 2-5 years Erythroderma
What is Bazex-Dupre-Christol syndrome?
Follicular atrophoderma-BCC syndrome
BAZEX MGF
BCCs - esp on face
Atrophoderma - follicular, of extremeties
Zero sweat - hypohidrosis above neck
Empty follicles - scalp hypotrichosis in males
X-linked dominant (males + females affected)
Also;
Milia
Genital trichoepitheliomas
Facial hyperpigmentation
What are features of Atrophoderma of Pasini and Pierini?
Young women
Brown/blue depressed round/oval patches usually on the back
Can be chest/ arms/ abdomen; spares acral sites
‘Cliff drop’ 1-8mm from normal skin
NO erythema/lilac edge, NO induration
Linear variant; Linear atrophoderma of Moulin
Slowly extend in size and number for 10yrs then stabilize and persist
Benign condition, asymptomatic
cause unknown
mooted assoc w/ Lyme borreliosis
What is Rx of Atrophoderma of Pasini and Pierini?
No proven treatment but PUVA has helped
some people Rx with penicillin/ tetracycline given Borrelia association
HCQ or Q-switched laser have had positive case reports
What is histo of Atrophoderma of Pasini and Pierini?
Oedematous and clumped collagen in lower dermis initially; later oedema subsides
Can be increased basal layer pigmentation
Perivascular infiltrate of macrophages and T-lymphocytes
IMF shows IgM and C3 in dermal blood vessels
Eventually epidermal atrophy
Normal elastin
What is Acrodermatitis Chronica Atrophicans?
Late manifestation of Lyme borreliosis
Insidious onset of painless dull red nodules or plaques on the extremities (acro=acral), which slowly extend centrifugally leaving areas of central wrinkled atrophy and can be dyspigmentation or scale
May be pain, itch, numbness, hyperaesthesia
Due to Borrelia afzelii - N and C Europe, Italy and the Iberian Peninsula (rare in UK and USA)
T/F
Panatrophy means thinning of the dermis and epidermis
False
Means atrophy of dermis + SC fat +/- deeper structures (muscle and bone)
may be due to neurological defect of sympathetic nervous system
NB In cutaneous and panatrophy there may or may not be epidermal atrophy
Panatrophy Includes;
Local Panatrophy
- Gower or Sclerotic
- Parry-Romberg’s syndrome
What are causes of Generalised cutaneous atrophy?
Aging
RA
steroids
What are causes of Localised cutaneous atrophy?
Poikiloderma - congenital and acquired causes Atrophic scars - Varicella, LE, TB, deep fungal, Syphylis, ILCS, XRT Striae distensae Anetoderma-primary or secondary Acrodermatitis chronica atrophicans Follicular atrophoderma Vermiculate atrophoderma Atrophoderma of Pasini and Pierini Atrophic naevi
What is Panatrophy of Gower?
V rare condtion
Affects women in teens-30s
No preceding inflammatory sclerotic process
Back/buttocks/thighs/upper arms.
Irreg shape, develops in few wks then stays unchanged
DDx panniculitis
What is Sclerotic panatrophy?
Rare condition
sclerotic change precedes development of panatrophy
Linear band develop along limb or surround limb or trunk
Usually solitary
stop progression after few mths
T/F
Progressive Hemifacial Atrophy (Parry-Romberg’s syndrome) is the same as en coup de sabre
False
In Parry-Romberg there is little/no sclerosis of skin and skin is not bound down although it is atrophic
En coup de sabre usuallly limited to forehed and adjacent scalp and is limited to the skin
but can have en coup de sabre as well as Parry-Romberg
Most think these 2 are on a spectrum
T/F
Progressive Hemifacial Atrophy (Parry-Romberg’s syndrome) affects F>M
True
3x more females
NB en coupe de sabre also affects 2-3x more females
What are the features of Progressive Hemifacial Atrophy (Parry-Romberg’s syndrome)
Starts under age 20 Hyper/hypo pigmentation in irreg patches on cheeks, forehead and lower jaw May start w/ muscle spasms or neuralgia progressive atrophy ensues for months Can have hair loss heterochromia irides in 5% Variety of neurological signs - Horner’s most common, Epilepsy Can be localised to 1 division of trigeminal or involve whole side of face w sharp midline demarcation. Rarely bilat, or may involve ipsilat body Rx MTX +/- pred PUVA surgery
What is sclerotylosis/ Huriez syndrome?
Some People Hurry
diffuse Scleroatrophy of the hands
mild PPK
Hypoplastic nail changes
Increased risk of skin SCC and bowel cancer
Scleroatrophy is like sclerodactyly but no Raynauds
Nail changes include prominent lunulae, elongated cuticles, longitudinal and transverse ridging, increased longitudinal curvature and V shaped notches
Acitretin may help
What are the congenital causes of poikiloderma?
Werners
Blooms
Rothmund-Thompson
Dyskeratosis Congenita
Kindler syndrome
XP
Trichothiodystrophy (photosensitive type; PIBIDS)
Hartnup disease
Mendes da Costa syndrome (erythrokeratoderma variabilis)
Hereditary acrokeratotic poikiloderma of Weary (one family described only)
Hereditary sclerosing poikiloderma of Weary
Degos –Touraine syndrome
Neutral lipid storage disease
What is Degos –Touraine syndrome?
Incontinentia pigmenti with poikiloderma and GI symptoms
What are the acquired causes of poikiloderma?
Poikiloderma of Civatte Dermatomyositis Cutaneous lupus LP Systemic sclerosis MF Poikiloderma with neutropenia (syndrome) Pre-lymphomatous poikiloderma (chronic superficial scaly dermatosis that has developed atrophy and reticulate pigmentation) Chronic cold or heat exposure XRT Acrodermatitis chronica atrophicans