CME      September 2001 Case presentations       CASE NO : 1


Name: Pradeep                Age/Sex: 14M, Student of Standard 7
Resident of Dakshinpuri, New Delhi.
Presenting Complaint:
Multiple hypopigmented papules and macules over entire body X 3 years
 scaling over the scalp                                                              X 6 weeks. 
History of present illness:
Developed multiple hypopigmented macules first over the neck followed by upper trunk and arms. Some lesions ere scaly and midly itchy. Slowly the lesions grew into papules.  About six weeks ago, he developed itching and scaling over the scalp.  There is no history of warty lesions anywhere on his body.
 

Past history:
Normal developmental milestones. Had immuniation as per redommendations.
Past history of pulmonary tuberculosis in 1996 and 1999 ( Presenting as bronchopneumonia).  Treated with ATT on presumptive diagnosis supported by radio diagnosis.
Bilateral nasolacrimal duct block treated with dacryocystorhinostomy 4 years ago. ( No. epihora now).
History of CSOM for which myringotomy and grommet insertion as done one year ago
-improved. ( Hearing normal now).
Had herpes zoster 5 mnths ago on the right side of the chest. Healed with scarring. 
Gives history8 of recurrent loose stools, weight loss, fever and loss of appetite.

Family history
No family history of similar skin lesions.
History of loss of three male siblings: One at age 6 weeks ( cause unknown), another at
age 4 due to typhoid, ad a third due to? diphtheria.

O/E
Mild pallor present.
Lymphadenopathy: Two submandibular (B/L)> 1.5 cm each, firm, discrete. B/L multiple
posterior cervical nodes < 0.5 cm.
Nails show Grde-II clubbing
Generalized involved of the body by multiple hypopigmented, round to oval flat-topped 
papules and macules of varying izes ( 2.5mm), coalescent over the face, chest and upper
back. On the right ide of the chest and extending onto the back is an elongated hyper-
pigmented, miodly hypertrophic scar in T-4 dermatome.
The scalp shows dirty whiile scaling extending beyond the hairline on all sides.

Diffuse loss of hair oer the scalp.
Oral cavity, genitalia- NAD.
Systemic examination:
Chest: coarse crepitations, B/L
CVS: NAD
Per abdomen: NAD

Investigations
X-ray chest: Multiple ring shadows with airflud levels with surrounding consolidation in
B/L paracrdiac region. B/L hilar prominence.
Hb: 10.3 gm%              TLC: 16200/cumm             DLC: 85/10/5
ESR: 40                        Plat:  4.86 lacs
Normocyti, mildly hypochromic anaemia
U/Cr: 15/06        Na/K: 133/4.2         Bil: 0.5
OT/PT/ALP: 19/10/202                      Serum prot: 8.0/4.0/4.0
Stool: Giardia=ve. Repeat sample sent- report awaited.
Urine:- RBC: 2, WBC: 4-6 Protein: +.
Mantoux: Non- reactive
Sputum for AFB: negative
KOH mount ( skin scraping): negative
HIV report: awaited
 IgE level: 586 ( normal : upto 200)
Other Ig's awaited
 CD4/CD8: awaited
Sweat chlordie: awaited
Ultrasound abdomen: normal scan
 

Skin biopsy no. 01- 20642

DIAGNOSIS: EPIDERMODYSPLASIA VERRUCIFORMIS

Purpose of demonstration: To share the experience of EDV associated with multiple other infections in a young child.
                                                                           Case No.2
A 13 year old body presented with
*          Erythema of soles at birth
*          Sparseness of hair  on scalp, eyebrows eyelashes at birth.
*           Thickening of the soles at one year of age hen he started walking. This progressively
              increased in in thickness to invole the hole sole. This caused pain and difficulty in walking.
              This progressively increased in thickness to involve tthe whole sole. This caused pain and
               difficulty in walking.
*              At 2 years of age he develolped a thickened plaque at the angle of the mouth and thickening of the palms. This was progressively increasing in size to involve the whole palm and extended upto the second phalange.  It grossly thickened causing difficulty in writing leading to abstience from school.
*            At 8-9 years of age he developed a thick plaue at the natal cleft which gradually increased in size and thickness.
*          He has sparseness of hair on scalp which has persisted since birth.  Eyebrows and eyelashes are also sparse. hair on the scalp has never increased to more than 1-3 cm in length.
*          Follicular papules on the scalp, arms, trunk.
*          Developmental milestoes are ithin normal limits.
*          Born of a non- consanguinous parents.  has one sibling who does not have any complaints.
GPE- WNL
Cutaneous examination
*          Massive palmer and thickening involving the whole of both palms and soles extending upto the middle phalanges of all fingers of both palms, extending  upto the flexor or writ and also sparing of distal part of toes.  The margin of the plaque is merging with the normal skin.  There is no erythematous border surrounding the  plaque.  Restriction of flexion of the fingers at the distal interphalangeal joints. knee, wrist, ankle, elbow, joints are not inolved.
*          Keratoic horn present on the natal cleft.
Extremities, Trunk
*          Discrete papules, which are follicular and having a keratotic fell present on the arms, trunk and thighs.
*          Thinin and thickening of finger and toe. There is lack of lusture of the nail plates, with riding in some of the nails.
Scalp
*          Short fine hair about  1cm in size with8 follicular papules on the scalp. The hair is very sparse.
*          Eyebrows and eyelashes are sparse too.
ORAL MUCOSA-NAD
INVESTIGATIONS
Routine investigtions     -   WNL          Lipid profile -     WNL
ENT -
*          Impacted material in the external canal for which syringing was done. Otherise WNL.
*          Dental, ophthalmology, clinial psychoanalysis-WNL
*          X-ray hand and feet
            -    Multiple soft tissue masses
             - Retarded bone age
            -   Deformities of underlying digits
SBx      -    95-10280
Treatment
*          On Acotreto 0/5mg/kg/day since 15/09/01
*          Emollients
Purpose of presentation
*          For demonstration
DIAGNOSIS: OLMSTED SYNDROME

CASE No.3

A 11 months female child presented  with
*          Nullous lesions on extremities- 5 months
History of presenting illness ( Informer- Parents)
 About 5 months back the child developed a single bullae on right heel which was burst with a needle prick by parents. The erosion healed in a period of 15-20 days. The  day after the onset of the first lesion, multiple bullae appeared over the buttocks, posterior surface of thighs and calf.  All these lesions appeared on a signe day and some were large enough to cover whole of the posterior surface of thigh. These lesions healed with scarring ( atrophic and hypertrophic) over a period of 2 months.  Then the child was asymptomatic for 1 1/2 months.  Since last 1 1/2  months she is developing bullae at varying intervals ( 3 days- 15 days) on back, left heel, legs, palms and left forearm. The last lesion to appear was on left forearm 12-15 days ago. During hospitalization in last one eek, no new lesion.
The evolution of all the lesions was bizarre and there was gross asymmetry of the lesions. A large bullae appears over a short period of time and there is no progression in size once it appears. Few lesions were preceeded by erythema for 15-30 minutes.
The bullae had serous fluid and does not have an inflammatory base. The roof of the bullae is blackish in color.  Aer the fluid is drained ( pin prick or spntaneously), the erosions heal with atrophic/hypertrophic scars over a period extending from 15 days to 2 months.
No history of trauma induced lesions. No history of bleeding from the erosions. The baby develops fever after the onset of bullae and cries excessively.
 No history     of mucosal lesions.
                             recurrent  diarrhoea, blood in stools.
Developmental history- within normal limits.
Family history
     The child is a part of a joint family, which has 12 members. Apparent cordial relationship between parents and other family members. The other children in the family are healthy. No  obvious psychiatric illness in the family.
     Mother has 1 sister and  bothers. Her childhood was uneventful. She lived away from husband  for two years after marriage.  She is married for 4 1/2 years.
     Socioeconomic hiustory: Low socioeconomic group. Fatther is a  factory worker.  Mother is a housewife. Grand mother and uncle work as daily wage labourer.
General physical examinat- within normal limits
Cutaneous examination
     Two erosions on right palm( 4x4cm) and left forearm ( 9x6cm). The edge of erosion is light pink with a rim of hypopigmentation.  Edge is not significantly raised.  Floor is overed with dirty yellow crusts and also with blackish crusts.  There is no raised temperature in the surrounding area. no tenderness.
    Multiple scars on loer bck, buttock, posterior surface of thighs.  Atrophic sars with central linear hypetrophic scars on thighs. There is hypopigmentation over the atrophic scars. The scars on lower back have central hyperpigmentation and peripheral hypopigmentation.  no milia formation.
     Few hypopigmented well defined macules over left scapular area and left thigh. irregular in shape. no atrophy or scaling on surface.
     No mechanical fragility.
     Mucoase}
     Nails      } within normal l limits.
     Hairs      }
Investigations
Hb- 8.2
TLC- 23,500
DLC- N78 L20 E2
Platelets- 4.18 lacs
Blood sugar-93
Urea/Creatinine- 18/0.5
Bilirubin - 0.6
Serum protein- 6.5/3.5/3.6
SGOT/SGPT/ALP- 30/8/235
Peripheral smear- 
Hypochromic microcytic RBCs, Neutrophilic leucocytosis
Protein C    }within normal limits
Protein  S    } 
Anti- nuclear antibody             } Negative ( both mother and child)
Anti- cardiolipin antibodies      } 
Pus culture/sensitivity- Contaminants grown on culture
Skin biopsy- 01- 21437
Purpose of demonstration- for diagnosis and management.
Case No.4
Mala Paul          22/F
History
*          Asymptomatic till aout 3-4 months of age, when hyperpigmented macules/some plaques were noted all over the  body, that gradually darkened over the next few years and then remained the same colour. 
*          H/o flattening of some elevated lesions over time.
*          Small hypopigmented macules noted within the above hyperpigemented lesions - on the back, lower abdomen, axillae, hand and feet, since childhood.  These macules hve remained unchanged.
*          No h/o blisters.
*          Milestones/eruption of teeth normal.
*          No h/o seizures/paresis.
*          Family history negative' no h/o consanguinity.
Examination
General
*           Normal except for facial asymmetry with hypoplasia of right side of lower jaw.
Skin
*          Hyperpigmented, linear (Blaschkoid) brownish macules and a few barely elevated plaues on the trunk, limbs and face.
*          Hypropigmented, mildly atrophic macules within the above lesions of upto 1 cm size, scattered on the loer abdomen, back, axillae and dorsa of hands and feet.
*          Mucosa, Hair, Nails          NAD
*          Systemic examination         NAD 
*          Ophthalmologic  }
*          Neutologic         }              NAD 
*          Orthopedic        } 
*          Dental/Prosthodontic- supereruption/rudimentary/impacted teeth over right side of lower jaw, with hypoplasia of the same side of the mandible. 
Investigations
Hemogram, peripheral smear   )
LFT, RFT                               ) 
Urine, stool                             )     Normal 
Chest X-ray, ECG
Skin Biopsy ( hper and hypopigmented lesions)- No. 01-18278
X-rays( skull) intracranial ligament calcification ( normal variant).
CT Scan ( Head)- Normal scan
DIAGNOSIS:INCONTINENTIA PIGMENTI
Purpose: Demonstration

Case No.5

A 17 year old male, resident of Rohini, New Delhi presented with
1.   Progressive dystrophy of nails- 5 years
2.   Reticulate pigmentation on neck and chest- 3 years
3.   Whitish plaues on oral mucosa- 3 years.
4.   Easy fatiguability- 2  1/2 years
History of presenting illness
     About 5 years ago patient developed swelling of nail- folds with scanty purulent discharge, which subsided spontaneously and left behind dystrophy of nail plates.  About 2 years later, he developed asymptomatic reticulate brown pigmentation over neck and chest.  At the same time he noticed whitish discoloration of the buccal mucosa associated with occasional painul erosions on the tongue.  Since last 2 1/2 years, he has exertional dyspenea, easy fatiguability and palpitations. He gives history suggestive of recurrent upper respirtory tract infectiions and repeated episodes of bruising on minor trauma and one episode of epistaxis. No history of hematuria, bleeding per rectum, melaena or gingival bleeding.  History of decreased sweating associated with increased body temperatures.
     No history of palmoplantar hyperhidrosis, acral blisters and photosensitivity.
Developmental history: within normal limits
Family history: Neither parents or sibling has similar disease
General physical examination
      Pulse: 86/min regular
     BP: 128/80 mm Hg
     Lymphadenopthy ( axilla and submandibular),     pallor ++
Cutaneous examination
     Fine reticulate brown hyperpigmenttion over neck and chest extending upto xiphisternum. No atrophy or telengiectasia.  A dark brown hyperpigemented macule with serrated margins on back (CALM).  Palms and sole show patchy erythema.
Nails: All the nails are dystrphic. Partial loss of nail plate ( in some it is complete), associated with splitting and ridging.
Oral cavity- Whitish irregular plaques on bilateral buccal mucosa, hard palate, tongue and gingiva.  Pimctate erosions on hard palate and buccal mucosa.
Hair:   Within normal limits
No eye/skeletal abnormality
Systemic examination- within normal limits
Investigations
     Hemoglobin                - 6.0 gm%
     TLC                           -  2500/Cumm 
     DLC                           -P42L48M6E2 myelocytes, metamyolocytes
     Platelets                       -  38000/cumm
     Reticulocyte counrt       -  1% 
     Peripheral smear           -   Microcytic/Hypochromic RBC
                                              Pancytopenia
     Bone marrow biopsy      -  C/W hypoplastic anemia
                                                 Cellularity ( 20-25%)
     Skelatal survey: within normal limits
DIAGNOSIS- DYSKERATOSIS CONGENITA.

CASE   NO.6

LUPUS PANNICULITIS- DEMONSTRATION

Ghansi 45 years  old housewife
PRESENTING COMPAINTS
*          Pain in peripheral joints-  2  1/2 years
*          Shooting type of pain in right arm and forearm 2  1/2 years.
*          Swelling/nodules over both cheeks and both arms 2 years. 
*          Loss of hair on right anterior scalp- 6  months
HISTORY
     Apparently well 2  1/2 years old before hen she developed pain in multiple peripheral joints involing shoulder, elbow, wrist, knee and ankle joints, not associated with swelling or erythema.  Simultaneously she developed shooting type of pain along right arm and forearm, more on abduction of shoulder joint.
     6 months later, she started developing erythematous, painful, localized swellings over left cheek followed by right cheek. These swellings gradually harden over 3-4 months followed by atrophy leding to depression on both cheeks.  Similar swellings/nodules ere formed in proximal part of both arms.
     6 months back  she developed alopecic patch over right frontoparietal scalp which gradually increased to the present size.
     No history of circumscribed skin lesions/photosensitivity/oral ulcers.
     No history of chest pain/palpitation/ breathlessness/periorbital swelling/hematuria/seizures/visual      blurirring
     No history of proximal muscle weakness/dysphagia/ Raynauld's phenomenon.
Past history- Not significant
Family history- Not significant
EXAMINATION
General Examination: Within normal limits
Cutaneous examination:
     Patient multiple ill defined, deepseated,  uneven, depressed nodules and plaues on both cheeks extending to submandibular area.  These nodules are indurated, mildly tender and overlying skin has brownish hyperpigmentation.  Nodules are adherent to overlying skin, underlying structures are free.  Similar noduels are present on both arms ( lateral aspect), more on right side.
     On right frontoparietal scalp, scarring alopecic area of 10x 8 cm with brownish hyperpigmentation is present.  There are no follicular papules.
*          Rest of  the skin, oral/genital mucosae, nails are normal.
*          There is mild tenderness of shoulder, elbows, wrist, knee, ankle joints of both sides.  There is no swelling on erythema over joints.
INVESTIGATIONS
Haemogram
Hb                -11.6gm%                    )
TLC              -  7100/cumm              )   Within normal limit 
DLC                -  N58 L5E4M3       )
Platelet count     164x10 cum/cumm   )
Liver Funtion Test
S. bilirubin                         - 0.7 mg%         )
SGOT                                - 45 IU/ml         )
SGPT                                 - 35IU/ml          )
Alkaline phosphatase          -  165 IU/ml      )    Within normal limit 
Total proteins                      -  8.8gm%        )
Albumin                               -  4.4gm%       )
Globulin                               -  4.4 gm%      ) 
ESR-45
Urine Examination: NAD
Chest X-ray- Shows cervical rib on right side. Rest of x-ray normal.
ANE               -Negative
RA factor        - Negative 
Serum C3        -  151 mg/dl ( Normal range 70-120mg/dl) 
Histopathology
     Skin biopsy from left cheek shows perivascular, periappendageal chronic inflammatory cell infiltrate in upper and lower dermis. Subcutis shows fat necrosis with infiltration by lymphocytes and foamy histiocytes.
     Alcain blue stain show mucinous oedema.
DIF shows IgM+ve at basement membrane zone
Diagnosis: Lupus panniculits with cervical rib ( right side)

Case No. 7

37 - years old, house  wife, resident of New Delhi presented to us with 
 
CHIEF  COPLAINTS
*  Apparently alright 5 years back.  Noticed asymptomatic vesicles  over both the 
   cheeks, eyelids upper lip, philtrum,
*  The  vesicles on  accident rupturing would discharge clear fluid
*   It started in the summer  months and would recur every summer and completely 
      subside during winters
*   Since last 4-5 years also noticed, asymptomatic  whitish  papules over the forehead , 
    cheeks, below the eyelids which persist  throughout the year 
CUTANEOUS EXAMINATION
*   Multiple 1-3 mm discrete, tense vesicles over  the upper lip, nose, nasal bridge, 
    forehead, on rupturing one of the vesicle there was clear fluid discharge.
*   No underlying erythema and tenderness
*    Multiple 1-3 mm discrete, white colored, papules, dome shaped, on lower eyelids and
    cheeks with no surface changes
*   Multiple open and closed comedones  over the cheeks.
*   Oral cavity shows diffuse hyperpigmentation in the left buccal mucosa, left upper lip
    and lower lip mucosal surface, no lacy whitish streaky pattern.
HISTOPATHOLOGICAL EXAMINATION
*   Skin biopsy upper lip shows features consistent with eccrine hudrocystoma.
DIAGNOSIS
   ECCRINE HYDROCYSTOMA WITH MILIA WITH COMEDONES
                                                                

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